#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CDH11	1009	broad.mit.edu	37	16	64984879	64984879	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:64984879C>T	ENST00000268603.4	-	12	2300	c.1685G>A	c.(1684-1686)cGg>cAg	p.R562Q	CDH11_ENST00000566827.1_Missense_Mutation_p.R436Q|CDH11_ENST00000394156.3_Missense_Mutation_p.R562Q	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGCTTCTGCCGACTGAACCC	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1684-1686)cGg>cAg		cadherin 11, type 2, OB-cadherin (osteoblast)							73.0	67.0	69.0					16																	64984879		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984879C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1685G>A	16.37:g.64984879C>T	ENSP00000268603:p.Arg562Gln	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.R562Q|CDH11_ENST00000566827.1_Missense_Mutation_p.R436Q	p.R562Q			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2138	-		Ovarian(137;0.0973)	562			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1685G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802397	0.96960	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.65732	1.69;-0.17	5.55	5.55	0.83447	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.71206	2.165	0.80722	D	1	D;P	0.89917	1.0;0.888	D;B	0.83275	0.996;0.271	T	0.78033	-0.2362	10	0.44086	T	0.13	.	18.497	0.90869	0.0:1.0:0.0:0.0	.	562;562	P55287-2;P55287	.;CAD11_HUMAN	Q	562;562;545	ENSP00000268603:R562Q;ENSP00000377711:R562Q	ENSP00000268603:R562Q	R	-	2	0	CDH11	63542380	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.899000	0.69846	2.594000	0.87642	0.655000	0.94253	CGG		0.597	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		4	54	0	0	0	1	0	4	54				
CCL28	56477	broad.mit.edu	37	5	43382044	43382044	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:43382044C>A	ENST00000361115.4	-	3	376	c.302G>T	c.(301-303)aGg>aTg	p.R101M	CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	101					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)			kidney(3)|lung(3)|ovary(1)	7						GTGTTTCTTCCTGTGGCAAAC	0.443																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)	ENST00000361115.4																			0				kidney(3)|lung(3)|ovary(1)	7						c.(301-303)aGg>aTg		chemokine (C-C motif) ligand 28							306.0	255.0	272.0					5																	43382044		2203	4300	6503	SO:0001583	missense	56477				chemotaxis|immune response	extracellular space	chemokine activity	g.chr5:43382044C>A	AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"""Chemokine ligands"", ""Endogenous ligands"""	17700	protein-coding gene	gene with protein product	"""CC chemokine CCL28"", ""mucosae-associated epithelial chemokine"", ""small inducible cytokine subfamily A (Cys-Cys), member 28"", ""small inducible cytokine A28"""	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.302G>T	5.37:g.43382044C>A	ENSP00000354416:p.Arg101Met					CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	p.R101M	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN			3	376	-			101					D7RIE7	Missense_Mutation	SNP	ENST00000361115.4	37	c.302G>T	CCDS3944.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438112	0.25900	.	.	ENSG00000151882	ENST00000361115;ENST00000513525	T;T	0.03920	3.76;3.76	5.07	-0.0534	0.13818	Chemokine interleukin-8-like domain (1);	0.780947	0.11589	N	0.548949	T	0.02571	0.0078	N	0.14661	0.345	0.36218	D	0.851837	B	0.11235	0.004	B	0.08055	0.003	T	0.42413	-0.9453	10	0.72032	D	0.01	0.0532	0.3881	0.00406	0.1899:0.2086:0.1741:0.4273	.	101	Q9NRJ3	CCL28_HUMAN	M	101;54	ENSP00000354416:R101M;ENSP00000422369:R54M	ENSP00000354416:R101M	R	-	2	0	CCL28	43417801	0.032000	0.19561	0.131000	0.22000	0.404000	0.30871	-0.031000	0.12287	-0.145000	0.11294	-0.302000	0.09304	AGG		0.443	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211631.2	NM_148672		5	175	1	0	0.184627	1	0.18913	5	175				
IREB2	3658	broad.mit.edu	37	15	78790472	78790472	+	Missense_Mutation	SNP	G	G	A	rs375120202		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:78790472G>A	ENST00000258886.8	+	22	3028	c.2879G>A	c.(2878-2880)cGa>cAa	p.R960Q		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	960					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTTGTGGCACGAAAATTCTCA	0.388																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2878-2880)cGa>cAa		iron-responsive element binding protein 2		G	GLN/ARG	0,4392		0,0,2196	122.0	112.0	116.0		2879	6.0	1.0	15		116	1,8585	1.2+/-3.3	0,1,4292	no	missense	IREB2	NM_004136.2	43	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	960/964	78790472	1,12977	2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78790472G>A	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2879G>A	15.37:g.78790472G>A	ENSP00000258886:p.Arg960Gln						p.R960Q	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	22	3028	+			960					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.2879G>A	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515356	0.96402	0.0	1.16E-4	ENSG00000136381	ENST00000258886	T	0.23950	1.88	5.98	5.98	0.97165	Aconitase/3-isopropylmalate dehydratase, swivel (1);	0.120552	0.64402	D	0.000019	T	0.53433	0.1796	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50709	-0.8796	10	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	960	P48200	IREB2_HUMAN	Q	960	ENSP00000258886:R960Q	ENSP00000258886:R960Q	R	+	2	0	IREB2	76577527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.859000	0.86982	2.838000	0.97847	0.591000	0.81541	CGA		0.388	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		5	80	0	0	0	1	0	5	80				
PCNX	22990	broad.mit.edu	37	14	71500674	71500674	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr14:71500674C>A	ENST00000304743.2	+	18	4141	c.3695C>A	c.(3694-3696)cCa>cAa	p.P1232Q	PCNX_ENST00000439984.3_Missense_Mutation_p.P1121Q|PCNX_ENST00000238570.5_Missense_Mutation_p.P1232Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1232						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGATTTTTCCAAAAACGGAA	0.313																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3694-3696)cCa>cAa		pecanex homolog (Drosophila)							45.0	51.0	49.0					14																	71500674		2201	4292	6493	SO:0001583	missense	22990					integral to membrane		g.chr14:71500674C>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3695C>A	14.37:g.71500674C>A	ENSP00000304192:p.Pro1232Gln					PCNX_ENST00000238570.5_Missense_Mutation_p.P1232Q|PCNX_ENST00000439984.3_Missense_Mutation_p.P1121Q	p.P1232Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	18	4141	+			1232					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3695C>A	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.996590|3.996590	0.74818|0.74818	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.10382|.	3.29;3.27;2.88|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.105723|.	0.64402|.	D|.	0.000003|.	T|T	0.74846|0.74846	0.3770|0.3770	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.835;0.999;0.998|.	P;D;D|.	0.66196|.	0.607;0.942;0.928|.	T|T	0.74016|0.74016	-0.3800|-0.3800	10|5	0.52906|.	T|.	0.07|.	.|.	18.7492|18.7492	0.91807|0.91807	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1232;1121;1232|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	Q|K	1232;1232;1121|291	ENSP00000304192:P1232Q;ENSP00000238570:P1232Q;ENSP00000396617:P1121Q|.	ENSP00000238570:P1232Q|.	P|Q	+|+	2|1	0|0	PCNX|PCNX	70570427|70570427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.081000|7.081000	0.76844|0.76844	2.420000|2.420000	0.82092|0.82092	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.313	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		3	65	1	0	0.115264	1	0.119533	3	65				
FAM228A	653140	broad.mit.edu	37	2	24406452	24406452	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:24406452T>A	ENST00000295150.3	+	5	425	c.339T>A	c.(337-339)tgT>tgA	p.C113*	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	113																	CTTCACACTGTGTGATTCCAA	0.408																																						ENST00000295150.3																			0											c.(337-339)tgT>tgA		family with sequence similarity 228, member A							59.0	55.0	56.0					2																	24406452		1869	4111	5980	SO:0001587	stop_gained	653140							g.chr2:24406452T>A		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.339T>A	2.37:g.24406452T>A	ENSP00000295150:p.Cys113*					RP11-507M3.1_ENST00000584973.1_3'UTR	p.C113*	NM_001040710.1	NP_001035800.1					5	425	+									Nonsense_Mutation	SNP	ENST00000295150.3	37	c.339T>A	CCDS42659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.35|14.35	2.510584|2.510584	0.44660|0.44660	.|.	.|.	ENSG00000186453|ENSG00000186453	ENST00000295150;ENST00000415196|ENST00000432434	.|.	.|.	.|.	3.81|3.81	-7.62|-7.62	0.01294|0.01294	.|.	1.843360|.	0.02704|.	N|.	0.112108|.	.|T	.|0.18341	.|0.0440	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.13710	.|-1.0499	.|3	0.35671|.	T|.	0.21|.	1.1237|1.1237	4.1857|4.1857	0.10397|0.10397	0.1026:0.1199:0.2043:0.5732|0.1026:0.1199:0.2043:0.5732	.|.	.|.	.|.	.|.	X|E	113;14|151	.|.	ENSP00000295150:C113X|.	C|V	+|+	3|2	2|0	C2orf84|C2orf84	24259956|24259956	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.851000|-0.851000	0.04313|0.04313	-2.747000|-2.747000	0.00376|0.00376	-0.479000|-0.479000	0.04858|0.04858	TGT|GTG		0.408	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		3	43	0	0	0	1	0	3	43				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		4	243	0	0	0	1	0	4	243				
HNRNPCL1	343069	broad.mit.edu	37	1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:12908039G>A	ENST00000317869.6	-	2	329	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	35	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGAAAAGATCGCCTCCACATC	0.473																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(103-105)gCg>gTg		heterogeneous nuclear ribonucleoprotein C-like 1							171.0	158.0	163.0					1																	12908039		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12908039G>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.104C>T	1.37:g.12908039G>A	ENSP00000365370:p.Ala35Val						p.A35V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	329	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.104C>T	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.370748	0.42003	.	.	ENSG00000179172	ENST00000317869	T	0.17054	2.3	1.09	-1.27	0.09347	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.132742	0.49305	N	0.000153	T	0.09024	0.0223	L	0.34521	1.04	0.32473	N	0.542534	P	0.44195	0.828	B	0.37780	0.258	T	0.29212	-1.0019	10	0.33940	T	0.23	.	5.3693	0.16131	0.39:0.0:0.61:0.0	.	35	O60812	HNRCL_HUMAN	V	35	ENSP00000365370:A35V	ENSP00000365370:A35V	A	-	2	0	HNRNPCL1	12830626	1.000000	0.71417	0.004000	0.12327	0.045000	0.14185	4.843000	0.62838	-0.384000	0.07845	-0.505000	0.04504	GCG		0.473	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		6	184	0	0	0	1	0	6	184				
CEACAM1	634	broad.mit.edu	37	19	43026110	43026110	+	Silent	SNP	C	C	T	rs143281867		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:43026110C>T	ENST00000161559.6	-	3	803	c.669G>A	c.(667-669)gcG>gcA	p.A223A	CEACAM1_ENST00000308072.4_Silent_p.A183A|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000403444.3_Silent_p.A223A|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000352591.5_Silent_p.A223A|CEACAM1_ENST00000599389.1_Silent_p.A223A|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Silent_p.A223A|CEACAM1_ENST00000358394.3_Silent_p.A223A	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	223	Ig-like C2-type 1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CACTGCGGTTCGCACTCACTG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		20473	0.0		0.001	False		,,,				2504	0.0					ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(667-669)gcG>gcA		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)	C	,,,,,	0,4406		0,0,2203	202.0	180.0	188.0		669,669,669,669,669,669	-4.9	0.0	19	dbSNP_134	188	3,8597		0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CEACAM1	NM_001024912.2,NM_001184813.1,NM_001184815.1,NM_001184816.1,NM_001205344.1,NM_001712.4	,,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,,	223/465,223/431,223/462,223/369,223/469,223/527	43026110	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43026110C>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.669G>A	19.37:g.43026110C>T						CEACAM1_ENST00000403444.3_Silent_p.A223A|CEACAM1_ENST00000352591.5_Silent_p.A223A|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000308072.4_Silent_p.A183A|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Silent_p.A223A|CEACAM1_ENST00000599389.1_Silent_p.A223A|CEACAM1_ENST00000358394.3_Silent_p.A223A|LIPE-AS1_ENST00000457234.2_RNA	p.A223A	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	3	803	-		Prostate(69;0.00682)	223			Ig-like C2-type 1.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	ENST00000161559.6	37	c.669G>A	CCDS12609.1																																																																																				0.557	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		5	189	0	0	0	1	0	5	189				
OGFOD1	55239	broad.mit.edu	37	16	56485625	56485625	+	Missense_Mutation	SNP	C	C	A	rs565164115	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:56485625C>A	ENST00000566157.1	+	1	224	c.101C>A	c.(100-102)aCc>aAc	p.T34N	NUDT21_ENST00000300291.5_5'Flank|OGFOD1_ENST00000568397.1_Missense_Mutation_p.T34N	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	34					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	ACGGAAGAAACCTTGAAAAAG	0.622													C|||	7	0.00139776	0.0	0.0	5008	,	,		16130	0.004		0.0	False		,,,				2504	0.0031					ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(100-102)aCc>aAc		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)						51.0	57.0	55.0					16																	56485625		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56485625C>A	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.101C>A	16.37:g.56485625C>A	ENSP00000457258:p.Thr34Asn					OGFOD1_ENST00000568397.1_Missense_Mutation_p.T34N	p.T34N	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			1	224	+			34					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.101C>A	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670701	0.29693	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.8	0.0252	0.14144	.	0.798993	0.11903	N	0.518393	T	0.28599	0.0708	L	0.43152	1.355	0.09310	N	1	B	0.21905	0.062	B	0.18263	0.021	T	0.23297	-1.0192	9	0.20519	T	0.43	-10.7747	5.3882	0.16229	0.0:0.5262:0.133:0.3408	.	34	Q8N543	OGFD1_HUMAN	N	34	.	ENSP00000337196:T34N	T	+	2	0	OGFOD1	55043126	0.002000	0.14202	0.058000	0.19502	0.982000	0.71751	0.448000	0.21726	0.026000	0.15269	0.563000	0.77884	ACC		0.622	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		11	51	1	0	6.40141e-05	1	7.26647e-05	11	51				
PIK3C2B	5287	broad.mit.edu	37	1	204409362	204409362	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:204409362G>A	ENST00000367187.3	-	23	3893	c.3337C>T	c.(3337-3339)Cgc>Tgc	p.R1113C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1113	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATGACCATGCGCATGTCCAGC	0.597																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3337-3339)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							136.0	118.0	124.0					1																	204409362		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204409362G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3337C>T	1.37:g.204409362G>A	ENSP00000356155:p.Arg1113Cys					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085C	p.R1113C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		23	3893	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1113			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3337C>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665335	0.88251	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.78126	-1.15;-1.15	6.06	6.06	0.98353	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.048250	0.85682	D	0.000000	D	0.84800	0.5552	L	0.48362	1.52	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	P;D	0.63033	0.859;0.91	D	0.84949	0.0870	10	0.87932	D	0	.	20.2194	0.98323	0.0:0.0:1.0:0.0	.	1085;1113	F5GWN5;O00750	.;P3C2B_HUMAN	C	1113;1085	ENSP00000356155:R1113C;ENSP00000400561:R1085C	ENSP00000356155:R1113C	R	-	1	0	PIK3C2B	202675985	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.115000	0.57865	2.879000	0.98667	0.650000	0.86243	CGC		0.597	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		4	160	0	0	0	1	0	4	160				
CATSPERG	57828	broad.mit.edu	37	19	38858384	38858384	+	Silent	SNP	C	C	T	rs2302184		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:38858384C>T	ENST00000409235.3	+	25	3013	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D	CATSPERG_ENST00000410018.1_Silent_p.D926D|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	966					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAGTGAGGACGAAATCTACC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17275	0.0		0.0	False		,,,				2504	0.001					ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2896-2898)gaC>gaT		catsper channel auxiliary subunit gamma		C		0,4406		0,0,2203	227.0	238.0	234.0		2898	-3.5	0.3	19	dbSNP_100	234	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CATSPERG	NM_021185.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		966/1160	38858384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858384C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2898C>T	19.37:g.38858384C>T						CATSPERG_ENST00000410018.1_Silent_p.D926D|CATSPERG_ENST00000215069.4_3'UTR	p.D966D	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			25	3013	+			966					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2898C>T	CCDS12514.2																																																																																				0.597	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		27	388	0	0	0	1	0	27	388				
DNPEP	23549	broad.mit.edu	37	2	220251660	220251660	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:220251660C>T	ENST00000373972.1	-	0	194				DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N|DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|AC053503.4_ENST00000420563.1_RNA			Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase						peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGAGTTCACTGAAGCCAGC	0.587																																						ENST00000373972.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17								aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						90.0	91.0	90.0					2																	220251660		1941	4134	6075			23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220251660C>T		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000373972.1:c.-53G>A	2.37:g.220251660C>T						DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N				Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	0	194	-		Renal(207;0.0474)						Q9BW44|Q9NUV5	Translation_Start_Site	SNP	ENST00000373972.1	37			.	.	.	.	.	.	.	.	.	.	C	10.82	1.458692	0.26248	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000523282;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000519905	.	.	.	5.07	1.49	0.22878	.	0.987279	0.08278	N	0.970320	T	0.31327	0.0793	L	0.42581	1.335	0.21822	N	0.999529	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.002;0.001;0.004;0.001	T	0.27502	-1.0072	9	0.29301	T	0.29	-9.0408	3.9196	0.09237	0.1477:0.239:0.0:0.6133	.	66;58;66;48;58	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	N	58;58;66;66;44;58;58;44	.	ENSP00000273075:S58N	S	-	2	0	DNPEP	219959904	0.318000	0.24598	0.993000	0.49108	0.593000	0.36681	-0.213000	0.09305	0.020000	0.15106	-0.367000	0.07326	AGT		0.587	DNPEP-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000130216.2	NM_012100		16	79	0	0	0	1	0	16	79				
GAD2	2572	broad.mit.edu	37	10	26513522	26513522	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:26513522G>T	ENST00000376261.3	+	6	1169	c.666G>T	c.(664-666)aaG>aaT	p.K222N	GAD2_ENST00000376248.1_Missense_Mutation_p.K108N|GAD2_ENST00000259271.3_Missense_Mutation_p.K222N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	222					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACACTAAAGAAAATGAGAG	0.378																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(664-666)aaG>aaT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						115.0	118.0	117.0					10																	26513522		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26513522G>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.666G>T	10.37:g.26513522G>T	ENSP00000365437:p.Lys222Asn					GAD2_ENST00000376248.1_Missense_Mutation_p.K108N|GAD2_ENST00000259271.3_Missense_Mutation_p.K222N	p.K222N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			6	1169	+			222					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.666G>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992243	0.54041	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000376248	T;T;T	0.35421	1.31;1.31;1.31	5.21	4.31	0.51392	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.246394	0.46758	D	0.000264	T	0.40645	0.1125	M	0.71920	2.185	0.80722	D	1	B	0.19706	0.038	B	0.24006	0.05	T	0.34527	-0.9825	10	0.52906	T	0.07	-19.4394	13.9159	0.63897	0.0735:0.0:0.9265:0.0	.	222	Q05329	DCE2_HUMAN	N	222;222;108	ENSP00000365437:K222N;ENSP00000259271:K222N;ENSP00000365424:K108N	ENSP00000259271:K222N	K	+	3	2	GAD2	26553528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.650000	0.61440	1.206000	0.43276	0.655000	0.94253	AAG		0.378	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		5	120	1	0	0.0293803	1	0.0312399	5	120				
SLC22A23	63027	broad.mit.edu	37	6	3287259	3287259	+	Silent	SNP	C	C	A	rs149321576		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:3287259C>A	ENST00000406686.3	-	7	1379	c.1380G>T	c.(1378-1380)ccG>ccT	p.P460P	SLC22A23_ENST00000380302.4_Silent_p.P179P|SLC22A23_ENST00000490273.1_Silent_p.P179P|SLC22A23_ENST00000436008.2_Silent_p.P460P|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	460					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TCTCCAGGAGCGGCACCTTCA	0.632																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1378-1380)ccG>ccT		solute carrier family 22, member 23							149.0	103.0	118.0					6																	3287259		2203	4300	6503	SO:0001819	synonymous_variant	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3287259C>A	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1380G>T	6.37:g.3287259C>A						SLC22A23_ENST00000406686.3_Silent_p.P460P|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Silent_p.P179P|SLC22A23_ENST00000380302.4_Silent_p.P179P	p.P460P			A1A5C7	S22AN_HUMAN			7	1842	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	460					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	c.1380G>T	CCDS47363.1																																																																																				0.632	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		3	63	1	0	0.00909568	1	0.00979535	3	63				
DLEC1	9940	broad.mit.edu	37	3	38139333	38139333	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:38139333G>A	ENST00000308059.6	+	18	2685	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	DLEC1_ENST00000452631.2_Silent_p.Q888Q|DLEC1_ENST00000346219.3_Silent_p.Q888Q					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACGTCAGCCAGCTCCCAGCCA	0.597																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2662-2664)caG>caA		deleted in lung and esophageal cancer 1							58.0	65.0	63.0					3																	38139333		2143	4260	6403	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139333G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2664G>A	3.37:g.38139333G>A						DLEC1_ENST00000452631.2_Silent_p.Q888Q|DLEC1_ENST00000346219.3_Silent_p.Q888Q	p.Q888Q			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	18	2685	+			888						Silent	SNP	ENST00000308059.6	37	c.2664G>A	CCDS2672.2																																																																																				0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		3	76	0	0	0	1	0	3	76				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	38	0	0	0	1	0	3	38				
GPR119	139760	broad.mit.edu	37	X	129519055	129519055	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chrX:129519055C>T	ENST00000276218.2	-	1	456	c.367G>A	c.(367-369)Ggg>Agg	p.G123R		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	123					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						ATGCAGGCCCCGGCCACGAAC	0.567																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(367-369)Ggg>Agg		G protein-coupled receptor 119							94.0	90.0	92.0					X																	129519055		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519055C>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.367G>A	X.37:g.129519055C>T	ENSP00000276218:p.Gly123Arg						p.G123R	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	456	-			123					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.367G>A	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	C	5.393	0.257718	0.10239	.	.	ENSG00000147262	ENST00000276218	T	0.36157	1.27	4.96	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.219309	0.38720	N	0.001596	T	0.22126	0.0533	L	0.27053	0.805	0.09310	N	0.999995	B	0.15141	0.012	B	0.14578	0.011	T	0.15292	-1.0442	10	0.23891	T	0.37	-3.1175	6.9094	0.24327	0.1719:0.7354:0.0:0.0928	.	123	Q8TDV5	GP119_HUMAN	R	123	ENSP00000276218:G123R	ENSP00000276218:G123R	G	-	1	0	GPR119	129346736	0.178000	0.23122	0.602000	0.28890	0.787000	0.44495	2.014000	0.40951	1.082000	0.41137	-0.305000	0.09177	GGG		0.567	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		4	86	0	0	0	1	0	4	86				
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	rs569602183	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47.0	39.0	41.0					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		3	50	1	0	0.115264	1	0.119533	3	50				
CSTF2T	23283	broad.mit.edu	37	10	53458034	53458034	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:53458034C>T	ENST00000331173.4	-	1	1321	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	426	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TCTAAGACCTCAGTTTCCATG	0.527																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1276-1278)Gag>Aag		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							196.0	178.0	184.0					10																	53458034		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458034C>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1276G>A	10.37:g.53458034C>T	ENSP00000332444:p.Glu426Lys					PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	p.E426K	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1321	-			426			9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.1276G>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749004	0.30955	.	.	ENSG00000177613	ENST00000331173	T	0.20332	2.08	5.22	3.33	0.38152	.	0.817969	0.11031	N	0.607176	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	B	0.24533	0.105	B	0.24006	0.05	T	0.27739	-1.0065	10	0.24483	T	0.36	-2.3009	8.8354	0.35109	0.0:0.7594:0.1554:0.0852	.	426	Q9H0L4	CSTFT_HUMAN	K	426	ENSP00000332444:E426K	ENSP00000332444:E426K	E	-	1	0	CSTF2T	53128040	0.009000	0.17119	0.106000	0.21319	0.938000	0.57974	0.873000	0.28052	1.537000	0.49254	0.655000	0.94253	GAG		0.527	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		8	90	0	0	0	1	0	8	90				
ADIPOR1	51094	broad.mit.edu	37	1	202914151	202914151	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:202914151C>T	ENST00000340990.5	-	5	875	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V193I	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	193					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGACAATAGACGGTGTGAAAG	0.443																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(577-579)Gtc>Atc		adiponectin receptor 1							123.0	130.0	128.0					1																	202914151		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202914151C>T		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.577G>A	1.37:g.202914151C>T	ENSP00000341785:p.Val193Ile					ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V193I|ADIPOR1_ENST00000367254.3_Intron	p.V193I	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		5	875	-			193					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.577G>A	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192222	0.78902	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000426229	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	N	0.25094	0.71	0.80722	D	1	B	0.24368	0.102	B	0.29524	0.103	T	0.04976	-1.0914	10	0.20519	T	0.43	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	193	Q96A54	ADR1_HUMAN	I	193	ENSP00000341785:V193I;ENSP00000395469:V193I;ENSP00000402178:V193I;ENSP00000392946:V193I	ENSP00000341785:V193I	V	-	1	0	ADIPOR1	201180774	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.805000	0.86005	2.941000	0.99782	0.655000	0.94253	GTC		0.443	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		4	155	0	0	0	1	0	4	155				
SLC45A2	51151	broad.mit.edu	37	5	33947262	33947262	+	Intron	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:33947262G>A	ENST00000296589.4	-	6	1515				SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000382102.3_Silent_p.C458C	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2						developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCAATGACAGCACACCTCCT	0.498																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1372-1374)tgC>tgT		solute carrier family 45, member 2							212.0	202.0	205.0					5																	33947262		2203	4300	6503	SO:0001627	intron_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947262G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1368+5C>T	5.37:g.33947262G>A						SLC45A2_ENST00000296589.4_Intron|SLC45A2_ENST00000342059.3_Intron	p.C458C	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			6	1431	-			0					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.1374C>T	CCDS3901.1																																																																																				0.498	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		4	262	0	0	0	1	0	4	262				
CKMT2	1160	broad.mit.edu	37	5	80548571	80548571	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:80548571C>T	ENST00000424301.2	+	4	448	c.210C>T	c.(208-210)ccC>ccT	p.P70P	CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Silent_p.P70P|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Silent_p.P70P	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	70	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GCCTCACCCCCGCCATTTATG	0.617																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(208-210)ccC>ccT		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						111.0	94.0	100.0					5																	80548571		2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80548571C>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.210C>T	5.37:g.80548571C>T						CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Silent_p.P70P|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Silent_p.P70P	p.P70P	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	4	448	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	70			Phosphagen kinase N-terminal.		Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.210C>T	CCDS4053.1																																																																																				0.617	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		13	82	0	0	0	1	0	13	82				
NHS	4810	broad.mit.edu	37	X	17744786	17744786	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chrX:17744786C>T	ENST00000380060.3	+	6	2835	c.2497C>T	c.(2497-2499)Cgt>Tgt	p.R833C	NHS_ENST00000398097.3_Missense_Mutation_p.R677C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	854					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCCACCTAAACGTAGCTCATC	0.488																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(2497-2499)Cgt>Tgt		Nance-Horan syndrome (congenital cataracts and dental anomalies)							120.0	115.0	117.0					X																	17744786		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17744786C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2497C>T	X.37:g.17744786C>T	ENSP00000369400:p.Arg833Cys					NHS_ENST00000398097.3_Missense_Mutation_p.R677C	p.R833C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	2835	+	Hepatocellular(33;0.183)		833					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.2497C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487264	0.44249	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.81163	-1.46;-1.42	5.93	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.89894	0.6847	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	D	0.91111	0.4922	10	0.87932	D	0	-13.2308	15.5434	0.76074	0.1391:0.8609:0.0:0.0	.	854;675;677;833	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	C	833;677;675	ENSP00000369400:R833C;ENSP00000381170:R677C	ENSP00000369397:R675C	R	+	1	0	NHS	17654707	1.000000	0.71417	0.973000	0.42090	0.966000	0.64601	4.695000	0.61767	1.240000	0.43803	0.538000	0.68166	CGT		0.488	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		4	78	0	0	0	1	0	4	78				
MFI2	4241	broad.mit.edu	37	3	196735710	196735710	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:196735710T>G	ENST00000296350.5	-	12	1765	c.1652A>C	c.(1651-1653)gAg>gCg	p.E551A		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	551	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTAATACCGCTCCTGGCTGTT	0.672																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1651-1653)gAg>gCg		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							90.0	80.0	83.0					3																	196735710		2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196735710T>G		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1652A>C	3.37:g.196735710T>G	ENSP00000296350:p.Glu551Ala						p.E551A	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	12	1765	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		551			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.1652A>C	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069149	0.76301	.	.	ENSG00000163975	ENST00000296350	T	0.38240	1.15	4.96	4.96	0.65561	.	0.051772	0.85682	D	0.000000	T	0.65059	0.2655	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.72924	-0.4144	10	0.87932	D	0	-42.6798	13.4985	0.61440	0.0:0.0:0.0:1.0	.	551	P08582	TRFM_HUMAN	A	551	ENSP00000296350:E551A	ENSP00000296350:E551A	E	-	2	0	MFI2	198220107	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.797000	0.85911	1.852000	0.53769	0.455000	0.32223	GAG		0.672	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			6	77	0	0	0	1	0	6	77				
OR10H4	126541	broad.mit.edu	37	19	16060516	16060516	+	Silent	SNP	C	C	T	rs370722157		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:16060516C>T	ENST00000322107.1	+	1	699	c.699C>T	c.(697-699)gcC>gcT	p.A233A		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TTCCCTCTGCCGAAGGCCGGC	0.512																																						ENST00000322107.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(697-699)gcC>gcT		olfactory receptor, family 10, subfamily H, member 4		C		0,4406		0,0,2203	196.0	179.0	185.0		699	-1.6	0.1	19		185	2,8598		0,2,4298	no	coding-synonymous	OR10H4	NM_001004465.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		233/317	16060516	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060516C>T	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.699C>T	19.37:g.16060516C>T							p.A233A	NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN			1	699	+			233					Q6IFJ2|Q96R57	Silent	SNP	ENST00000322107.1	37	c.699C>T	CCDS32941.1																																																																																				0.512	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			5	171	0	0	0	1	0	5	171				
MRPS23	51649	broad.mit.edu	37	17	55917219	55917219	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:55917219C>A	ENST00000313608.8	-	5	543	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	166					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTTTCTGAGTCTCGTTTTCTT	0.488																																						ENST00000313608.8																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(496-498)gaG>gaT		mitochondrial ribosomal protein S23							186.0	151.0	163.0					17																	55917219		2203	4300	6503	SO:0001583	missense	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55917219C>A	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.498G>T	17.37:g.55917219C>A	ENSP00000320184:p.Glu166Asp						p.E166D	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN			5	543	-	Breast(9;8.75e-08)		166					B2R6V3|Q96Q24|Q9BWH8|Q9P053	Missense_Mutation	SNP	ENST00000313608.8	37	c.498G>T	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074052	0.36566	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.87	3.85	0.44370	.	0.227419	0.46442	N	0.000283	T	0.16981	0.0408	N	0.08118	0	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.16541	-1.0399	9	0.20519	T	0.43	.	8.8624	0.35265	0.0:0.7696:0.1486:0.0819	.	166	Q9Y3D9	RT23_HUMAN	D	166	.	ENSP00000320184:E166D	E	-	3	2	MRPS23	53272218	0.004000	0.15560	0.034000	0.17996	0.016000	0.09150	0.877000	0.28106	1.463000	0.47967	0.655000	0.94253	GAG		0.488	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		5	74	1	0	0.000602214	1	0.000656961	5	74				
TCF3	6929	broad.mit.edu	37	19	1615477	1615477	+	Silent	SNP	C	C	T	rs1052738		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:1615477C>T	ENST00000262965.5	-	18	1973	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	TCF3_ENST00000453954.2_Intron|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CCCGCTCGGCCTTCTGCTCTG	0.687			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1627-1629)aaG>aaA		transcription factor 3							37.0	42.0	40.0					19																	1615477		2200	4298	6498	SO:0001819	synonymous_variant	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1615477C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1629G>A	19.37:g.1615477C>T						TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000344749.5_Intron	p.K543K	NM_003200.3	NP_003191.1	P15923	TFE2_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)	18	1973	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	543					Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	c.1629G>A	CCDS12074.1																																																																																				0.687	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		28	73	0	0	0	1	0	28	73				
ZNF536	9745	broad.mit.edu	37	19	30936378	30936378	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:30936378G>A	ENST00000355537.3	+	2	2056	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	637					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G637S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGACTGCGGCCGGGTGTT	0.622																																						ENST00000355537.3																			1	Substitution - Missense(1)	p.G637S(1)	large_intestine(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1909-1911)Ggc>Agc		zinc finger protein 536							82.0	94.0	90.0					19																	30936378		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936378G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1909G>A	19.37:g.30936378G>A	ENSP00000347730:p.Gly637Ser						p.G637S	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	2056	+	Esophageal squamous(110;0.0834)		637					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1909G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754706	0.69648	.	.	ENSG00000198597	ENST00000355537	T	0.58358	0.34	5.68	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.049558	0.85682	D	0.000000	T	0.67822	0.2934	L	0.59436	1.845	0.54753	D	0.999984	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.71935	-0.4442	10	0.72032	D	0.01	-33.1419	16.434	0.83869	0.0:0.1316:0.8684:0.0	.	637;637	A7E228;O15090	.;ZN536_HUMAN	S	637	ENSP00000347730:G637S	ENSP00000347730:G637S	G	+	1	0	ZNF536	35628218	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.435000	0.97529	1.324000	0.45282	0.655000	0.94253	GGC		0.622	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		4	173	0	0	0	1	0	4	173				
ZDHHC17	23390	broad.mit.edu	37	12	77222174	77222174	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:77222174T>C	ENST00000426126.2	+	10	1694	c.1045T>C	c.(1045-1047)Ttt>Ctt	p.F349L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	349					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTACAGATCCTTTTTCGATCA	0.308																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1045-1047)Ttt>Ctt		zinc finger, DHHC-type containing 17							228.0	215.0	219.0					12																	77222174		1812	4067	5879	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77222174T>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1045T>C	12.37:g.77222174T>C	ENSP00000403397:p.Phe349Leu					ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	p.F349L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			10	1694	+			349					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1045T>C	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440855	0.25900	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.29397	1.57;1.57	5.72	5.72	0.89469	.	0.143078	0.64402	D	0.000004	T	0.15478	0.0373	N	0.05487	-0.04	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.09185	-1.0686	10	0.02654	T	1	-15.0086	16.0023	0.80306	0.0:0.0:0.0:1.0	.	349	Q8IUH5	ZDH17_HUMAN	L	349	ENSP00000403397:F349L;ENSP00000334868:F349L	ENSP00000334868:F349L	F	+	1	0	ZDHHC17	75746305	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.255000	0.72466	2.177000	0.69029	0.533000	0.62120	TTT		0.308	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		3	197	0	0	0	1	0	3	197				
C15orf26	161502	broad.mit.edu	37	15	81427611	81427611	+	Splice_Site	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:81427611G>T	ENST00000286732.4	+	2	153	c.70G>T	c.(70-72)Gag>Tag	p.E24*		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	24										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTCTGTTTAGGAGCTCATGAA	0.338																																						ENST00000286732.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.e2-1		chromosome 15 open reading frame 26							65.0	68.0	67.0					15																	81427611		1793	4066	5859	SO:0001630	splice_region_variant	161502							g.chr15:81427611G>T	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.70-1G>T	15.37:g.81427611G>T							p.E24_splice	NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN			2	153	+			24					Q8N906	Splice_Site	SNP	ENST00000286732.4	37	c.69_splice	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378427	0.82682	.	.	ENSG00000156206	ENST00000286732	.	.	.	4.94	4.94	0.65067	.	0.115341	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.5488	16.9642	0.86281	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	.	E	+	1	0	C15orf26	79214666	1.000000	0.71417	0.997000	0.53966	0.421000	0.31385	5.393000	0.66279	2.257000	0.74773	0.591000	0.81541	GAG		0.338	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	Nonsense_Mutation	5	53	1	0	0.000602214	1	0.000656961	5	53				
RAD54L	8438	broad.mit.edu	37	1	46736426	46736426	+	Missense_Mutation	SNP	C	C	T	rs150138364		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:46736426C>T	ENST00000371975.4	+	10	1812	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	RAD54L_ENST00000442598.1_Missense_Mutation_p.R380W|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	380			R -> Q (in dbSNP:rs28363234). {ECO:0000269|Ref.2}.		chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGGAGAGGAGCGGCTGCGGGA	0.498								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1138-1140)Cgg>Tgg	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	88.0	82.0	84.0		1138,1138	5.7	1.0	1	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RAD54L	NM_001142548.1,NM_003579.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	380/748,380/748	46736426	1,13005	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46736426C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1138C>T	1.37:g.46736426C>T	ENSP00000361043:p.Arg380Trp					RAD54L_ENST00000442598.1_Missense_Mutation_p.R380W	p.R380W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	10	1812	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	380		R -> Q (in dbSNP:rs28363234).			Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1138C>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771516	0.69992	0.0	1.16E-4	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93763	-3.28;-3.28	5.71	5.71	0.89125	SNF2-related (1);	0.053328	0.64402	D	0.000001	D	0.97492	0.9179	H	0.95187	3.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.958	D	0.98005	1.0362	10	0.72032	D	0.01	-9.7981	12.8804	0.58014	0.2703:0.7297:0.0:0.0	.	200;380	G3V1N0;Q92698	.;RAD54_HUMAN	W	380;380;200	ENSP00000396113:R380W;ENSP00000361043:R380W	ENSP00000361043:R380W	R	+	1	2	RAD54L	46509013	1.000000	0.71417	0.995000	0.50966	0.472000	0.32918	3.212000	0.51145	2.691000	0.91804	0.563000	0.77884	CGG		0.498	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		4	62	0	0	0	1	0	4	62				
RP1	6101	broad.mit.edu	37	8	55540415	55540415	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr8:55540415G>A	ENST00000220676.1	+	4	4121	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1325					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGAGGGAGCTTGCCC	0.393																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(3973-3975)Gga>Aga		retinitis pigmentosa 1 (autosomal dominant)							138.0	135.0	136.0					8																	55540415		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540415G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3973G>A	8.37:g.55540415G>A	ENSP00000220676:p.Gly1325Arg						p.G1325R	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4121	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1325						Missense_Mutation	SNP	ENST00000220676.1	37	c.3973G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	0.710	-0.787448	0.02907	.	.	ENSG00000104237	ENST00000220676	T	0.20332	2.08	5.89	1.05	0.20165	.	1.942090	0.02329	N	0.073714	T	0.11239	0.0274	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20974	-1.0259	10	0.25751	T	0.34	.	4.642	0.12555	0.3276:0.0:0.5139:0.1585	.	1325	P56715	RP1_HUMAN	R	1325	ENSP00000220676:G1325R	ENSP00000220676:G1325R	G	+	1	0	RP1	55702968	0.000000	0.05858	0.002000	0.10522	0.134000	0.20937	-0.169000	0.09911	0.248000	0.21435	0.655000	0.94253	GGA		0.393	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		26	108	0	0	0	1	0	26	108				
SCN10A	6336	broad.mit.edu	37	3	38743403	38743403	+	Silent	SNP	G	G	A	rs141828577		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:38743403G>A	ENST00000449082.2	-	26	4583	c.4584C>T	c.(4582-4584)ttC>ttT	p.F1528F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1528					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCTCAAAGCGAACATCTTCA	0.468																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4582-4584)ttC>ttT		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	G		1,4405	2.1+/-5.4	0,1,2202	141.0	117.0	125.0		4584	-3.7	0.9	3	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCN10A	NM_006514.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		1528/1957	38743403	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38743403G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4584C>T	3.37:g.38743403G>A							p.F1528F	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	26	4583	-			1528					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4584C>T	CCDS33736.1																																																																																				0.468	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		14	75	0	0	0	1	0	14	75				
KSR2	283455	broad.mit.edu	37	12	118298123	118298123	+	Silent	SNP	G	G	A	rs55997942	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:118298123G>A	ENST00000339824.5	-	2	1021	c.294C>T	c.(292-294)atC>atT	p.I98I	KSR2_ENST00000425217.1_Silent_p.I69I			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	98					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACATCGACGATTCGGAACC	0.632													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19481	0.002		0.0	False		,,,				2504	0.0					ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(205-207)atC>atT		kinase suppressor of ras 2							61.0	65.0	64.0					12																	118298123		1568	3582	5150	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118298123G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.294C>T	12.37:g.118298123G>A						KSR2_ENST00000339824.5_Silent_p.I98I	p.I69I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			2	261	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		98					A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.207C>T																																																																																					0.632	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		3	48	0	0	0	1	0	3	48				
SEC24C	9632	broad.mit.edu	37	10	75530065	75530065	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:75530065G>A	ENST00000339365.2	+	22	3052	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000540668.1_Missense_Mutation_p.E212K|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.E212K|SEC24C_ENST00000411652.2_Missense_Mutation_p.E845K|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000345254.4_Missense_Mutation_p.E964K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	964					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GAGTACTACCGAACCACCAGC	0.507																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2890-2892)Gaa>Aaa		SEC24 family member C							184.0	189.0	188.0					10																	75530065		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75530065G>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2890G>A	10.37:g.75530065G>A	ENSP00000343405:p.Glu964Lys					SEC24C_ENST00000411652.2_Missense_Mutation_p.E845K|SEC24C_ENST00000540668.1_Missense_Mutation_p.E212K|SEC24C_ENST00000535742.1_Missense_Mutation_p.E212K|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.E964K	p.E964K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			22	3052	+	Prostate(51;0.0112)		964					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2890G>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	8.293	0.818235	0.16607	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.91	5.91	0.95273	Gelsolin domain (1);	0.113535	0.64402	D	0.000016	T	0.27832	0.0685	L	0.54323	1.7	0.30635	N	0.757121	B;P	0.39847	0.357;0.691	B;B	0.32583	0.021;0.148	T	0.41342	-0.9514	10	0.52906	T	0.07	-11.8294	13.0263	0.58817	0.0:0.0:0.7993:0.2007	.	845;964	E7EP00;P53992	.;SC24C_HUMAN	K	212;964;212;964;845	ENSP00000446174:E212K;ENSP00000321845:E964K;ENSP00000445023:E212K;ENSP00000343405:E964K;ENSP00000402913:E845K	ENSP00000343405:E964K	E	+	1	0	SEC24C	75200071	0.999000	0.42202	0.995000	0.50966	0.425000	0.31504	3.275000	0.51639	2.791000	0.96007	0.655000	0.94253	GAA		0.507	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			4	288	0	0	0	1	0	4	288				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	50	0	0	0	1	0	4	50				
MTHFR	4524	broad.mit.edu	37	1	11860307	11860307	+	Missense_Mutation	SNP	C	C	T	rs574132670		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:11860307C>T	ENST00000376592.1	-	3	676	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	183					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	AAACTCACTTCGGATGTGCTT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		20887	0.0		0.0	False		,,,				2504	0.001					ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(547-549)cGa>cAa		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						366.0	277.0	307.0					1																	11860307		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11860307C>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.548G>A	1.37:g.11860307C>T	ENSP00000365777:p.Arg183Gln					MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q	p.R183Q			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	3	676	-	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	183					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.548G>A	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	37	6.102810	0.97286	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.96944	0.9002	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.945;0.991	D	0.97196	0.9861	10	0.87932	D	0	.	18.5335	0.91001	0.0:1.0:0.0:0.0	.	183;224	P42898;Q5SNW6	MTHR_HUMAN;.	Q	183;224;183;224	ENSP00000365777:R183Q;ENSP00000365767:R224Q;ENSP00000365775:R183Q;ENSP00000365770:R224Q	ENSP00000365767:R224Q	R	-	2	0	MTHFR	11782894	1.000000	0.71417	0.967000	0.41034	0.985000	0.73830	7.183000	0.77697	2.735000	0.93741	0.549000	0.68633	CGA		0.567	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		5	266	0	0	0	1	0	5	266				
CCDC180	100499483	broad.mit.edu	37	9	100132347	100132347	+	Missense_Mutation	SNP	C	C	T	rs141047389		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr9:100132347C>T	ENST00000357054.1	+	44	5235	c.4300C>T	c.(4300-4302)Cgg>Tgg	p.R1434W	CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W|CCDC180_ENST00000375202.2_Missense_Mutation_p.R1489W			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1434						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ACAGCAGAAGCGGCTGGAGAA	0.542																																						ENST00000375202.2																			0											c.(4465-4467)Cgg>Tgg		coiled-coil domain containing 180		C	TRP/ARG	0,4406		0,0,2203	38.0	43.0	41.0		4465	1.1	0.0	9	dbSNP_134	41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C9orf174	NM_020893.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1489/1702	100132347	2,13004	2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100132347C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4300C>T	9.37:g.100132347C>T	ENSP00000349562:p.Arg1434Trp					CCDC180_ENST00000357054.1_Missense_Mutation_p.R1434W|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR	p.R1489W							46	5817	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4465C>T		.	.	.	.	.	.	.	.	.	.	C	5.904	0.350950	0.11182	0.0	2.33E-4	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.47177	0.85;0.85;0.85	5.31	1.13	0.20643	.	0.874621	0.10119	N	0.713615	T	0.29389	0.0732	N	0.19112	0.55	0.09310	N	1	B;B	0.30104	0.029;0.268	B;B	0.16289	0.005;0.015	T	0.13229	-1.0517	10	0.66056	D	0.02	-4.2502	8.6457	0.34005	0.4625:0.3996:0.1378:0.0	.	1628;1434	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	W	1434;1489;1489	ENSP00000349562:R1434W;ENSP00000364348:R1489W;ENSP00000434727:R1489W	ENSP00000349562:R1434W	R	+	1	2	C9orf174	99172168	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.649000	0.05384	0.008000	0.14787	-0.169000	0.13324	CGG		0.542	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	29	0	0	0	1	0	4	29				
ESCO1	114799	broad.mit.edu	37	18	19153550	19153550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr18:19153550G>A	ENST00000269214.5	-	4	2192	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	419					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AAACTGGTTCGTAATAAGCCT	0.373																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1255-1257)Cga>Tga		establishment of sister chromatid cohesion N-acetyltransferase 1							100.0	102.0	101.0					18																	19153550		2203	4300	6503	SO:0001587	stop_gained	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153550G>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1255C>T	18.37:g.19153550G>A	ENSP00000269214:p.Arg419*						p.R419*	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	2192	-			419					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	37	c.1255C>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	45	11.317889	0.99546	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	5.8	2.68	0.31781	.	0.775370	0.11109	N	0.598830	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-18.2516	12.6554	0.56784	0.0:0.0:0.3607:0.6393	.	.	.	.	X	419	.	ENSP00000269214:R419X	R	-	1	2	ESCO1	17407548	0.987000	0.35691	0.865000	0.33974	0.982000	0.71751	1.872000	0.39549	0.761000	0.33130	0.655000	0.94253	CGA		0.373	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		5	192	0	0	0	1	0	5	192				
UROC1	131669	broad.mit.edu	37	3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T	rs200384323		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity). {ECO:0000269|PubMed:19304569}.		cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACACCCAGCGGAAAGGCCC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17660	0.0		0.001	False		,,,				2504	0.0					ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1348-1350)cGc>cAc		urocanate hydratase 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	144.0	155.0	151.0		1529,1349	3.5	1.0	3		151	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	UROC1	NM_001165974.1,NM_144639.2	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	510/737,450/677	126216983	3,13003	2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126216983C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1349G>A	3.37:g.126216983C>T	ENSP00000290868:p.Arg450His					UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	p.R450H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	14	1402	-			450		R -> C (in UROD; loss of activity).			E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1349G>A	CCDS3038.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.2	4.109398	0.77096	2.27E-4	2.33E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.65916	-0.18;-0.18	4.4	3.52	0.40303	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87253	0.2274	10	0.87932	D	0	-9.3123	10.1803	0.42963	0.0:0.9002:0.0:0.0998	.	510;450	E9PE13;Q96N76	.;HUTU_HUMAN	H	450;510	ENSP00000290868:R450H;ENSP00000373073:R510H	ENSP00000290868:R450H	R	-	2	0	UROC1	127699673	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.588000	0.67517	0.851000	0.35264	0.491000	0.48974	CGC		0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		9	250	0	0	0	1	0	9	250				
MYO15A	51168	broad.mit.edu	37	17	18023207	18023207	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:18023207G>A	ENST00000205890.5	+	2	1431	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	365					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CACTCCCTACGATGTACCCTA	0.617																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1093-1095)Gat>Aat		myosin XVA							101.0	109.0	107.0					17																	18023207		2018	4177	6195	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023207G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1093G>A	17.37:g.18023207G>A	ENSP00000205890:p.Asp365Asn						p.D365N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1431	+	all_neural(463;0.228)		365			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1093G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244010	0.22796	.	.	ENSG00000091536	ENST00000205890	D	0.89617	-2.54	3.16	-0.167	0.13347	.	.	.	.	.	T	0.72260	0.3438	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.57323	-0.7831	9	0.06236	T	0.91	.	4.3695	0.11241	0.2377:0.4205:0.3418:0.0	.	365	Q9UKN7	MYO15_HUMAN	N	365	ENSP00000205890:D365N	ENSP00000205890:D365N	D	+	1	0	MYO15A	17963932	0.905000	0.30787	0.003000	0.11579	0.124000	0.20399	-0.438000	0.06905	0.032000	0.15435	0.561000	0.74099	GAT		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		6	175	0	0	0	1	0	6	175				
LRP2	4036	broad.mit.edu	37	2	170136033	170136033	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:170136033G>A	ENST00000263816.3	-	12	1699	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	LRP2_ENST00000443831.1_Silent_p.L472L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	472					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCCACAGCCAGGTTCTCTGGG	0.353																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1414-1416)Ctg>Ttg		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						81.0	88.0	85.0					2																	170136033		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170136033G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1414C>T	2.37:g.170136033G>A						LRP2_ENST00000443831.1_Silent_p.L472L	p.L472L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	12	1699	-			472					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.1414C>T	CCDS2232.1																																																																																				0.353	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		19	77	0	0	0	1	0	19	77				
ACAN	176	broad.mit.edu	37	15	89398620	89398620	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:89398620G>A	ENST00000561243.1	+	11	2804	c.2804G>A	c.(2803-2805)gGt>gAt	p.G935D	ACAN_ENST00000559004.1_Missense_Mutation_p.G935D|ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000439576.2_Missense_Mutation_p.G935D			P16112	PGCA_HUMAN	aggrecan	934	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTACGGTTGGTGAACTGCCC	0.557																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2803-2805)gGt>gAt		aggrecan							53.0	58.0	56.0					15																	89398620		1912	4128	6040	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398620G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2804G>A	15.37:g.89398620G>A	ENSP00000453342:p.Gly935Asp					ACAN_ENST00000559004.1_Missense_Mutation_p.G935D|ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000561243.1_Missense_Mutation_p.G935D	p.G935D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3178	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		935					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2804G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	2.090	-0.408729	0.04799	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.94828	-3.53;-3.53	4.49	0.384	0.16244	.	.	.	.	.	D	0.85141	0.5629	N	0.14661	0.345	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.25614	0.042;0.062	T	0.72023	-0.4415	9	0.16420	T	0.52	-1.3272	3.5856	0.07970	0.4144:0.0:0.4014:0.1841	.	935;935	E7ENV9;E7EX88	.;.	D	935	ENSP00000387356:G935D;ENSP00000341615:G935D	ENSP00000268134:G935D	G	+	2	0	ACAN	87199624	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.077000	0.14738	-0.022000	0.13986	0.563000	0.77884	GGT		0.557	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	34	0	0	0	1	0	4	34				
SLCO2B1	11309	broad.mit.edu	37	11	74904264	74904264	+	Splice_Site	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr11:74904264C>A	ENST00000289575.5	+	9	1472	c.1077C>A	c.(1075-1077)gtC>gtA	p.V359V	SLCO2B1_ENST00000454962.2_Splice_Site_p.V132V|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132V|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104V|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215V|SLCO2B1_ENST00000428359.2_Splice_Site_p.V337V|SLCO2B1_ENST00000532236.1_Splice_Site_p.V243V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	359					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCCCACAGTCTTCCCCAGGG	0.617																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.e9-1		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						68.0	67.0	68.0					11																	74904264		2200	4293	6493	SO:0001630	splice_region_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904264C>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1076-1C>A	11.37:g.74904264C>A						SLCO2B1_ENST00000532236.1_Splice_Site_p.V243_splice|SLCO2B1_ENST00000428359.2_Splice_Site_p.V337_splice|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132_splice|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215_splice|SLCO2B1_ENST00000454962.2_Splice_Site_p.V132_splice|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104_splice	p.V359_splice	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			9	1472	+			359					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Splice_Site	SNP	ENST00000289575.5	37	c.1075_splice	CCDS8235.1																																																																																				0.617	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	Silent	5	120	1	0	0.000157383	1	0.000176269	5	120				
CYP4F8	11283	broad.mit.edu	37	19	15739644	15739644	+	RNA	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:15739644C>T	ENST00000441682.2	+	0	1449							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTTCTCGGCGGGGCCCAGG	0.587																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							44.0	48.0	47.0					19																	15739644		2006	4196	6202			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739644C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739644C>T										P98187	CP4F8_HUMAN			0	1449	+									RNA	SNP	ENST00000441682.2	37			.	.	.	.	.	.	.	.	.	.	.	16.55	3.154859	0.57259	.	.	ENSG00000186526	ENST00000441682;ENST00000325723	.	.	.	3.32	2.27	0.28462	Cytochrome P450, conserved site (1);	0.079472	0.48767	U	0.000170	T	0.50922	0.1644	.	.	.	0.39606	D	0.969805	P;D	0.55800	0.752;0.973	P;P	0.51297	0.595;0.665	T	0.64158	-0.6473	7	0.72032	D	0.01	.	8.1849	0.31333	0.0:0.8756:0.0:0.1244	.	275;463	B4DU85;P98187	.;CP4F8_HUMAN	V	462;275	.	ENSP00000314398:A275V	A	+	2	0	CYP4F8	15600644	0.988000	0.35896	0.007000	0.13788	0.568000	0.35870	3.778000	0.55371	0.592000	0.29728	0.436000	0.28706	GCG		0.587	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		6	70	0	0	0	1	0	6	70				
CDKL2	8999	broad.mit.edu	37	4	76507096	76507096	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr4:76507096G>A	ENST00000429927.2	-	11	2132	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	CDKL2_ENST00000307465.4_Missense_Mutation_p.P554S	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	477					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCTGACAGGGGAGGTCCTGAT	0.383																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(1429-1431)Ccc>Tcc		cyclin-dependent kinase-like 2 (CDC2-related kinase)							72.0	71.0	72.0					4																	76507096		2203	4299	6502	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76507096G>A	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1429C>T	4.37:g.76507096G>A	ENSP00000412365:p.Pro477Ser					CDKL2_ENST00000307465.4_Missense_Mutation_p.P554S	p.P477S	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		11	2132	-			477					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1429C>T	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	G	3.248	-0.153900	0.06585	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.72942	-0.7;-0.44	4.79	1.11	0.20524	.	.	.	.	.	T	0.43122	0.1233	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.24941	-1.0146	9	0.09084	T	0.74	-13.8566	6.732	0.23388	0.3886:0.0:0.6114:0.0	.	554;477	B4DH08;Q92772	.;CDKL2_HUMAN	S	477;554	ENSP00000412365:P477S;ENSP00000306340:P554S	ENSP00000306340:P554S	P	-	1	0	CDKL2	76726120	0.100000	0.21855	0.161000	0.22692	0.059000	0.15707	0.335000	0.19806	0.326000	0.23384	0.561000	0.74099	CCC		0.383	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		7	40	0	0	0	1	0	7	40				
CACHD1	57685	broad.mit.edu	37	1	65142590	65142590	+	Silent	SNP	C	C	T	rs150699745		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:65142590C>T	ENST00000371073.2	+	22	2988	c.2988C>T	c.(2986-2988)tgC>tgT	p.C996C	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.C945C			Q5VU97	CAHD1_HUMAN	cache domain containing 1	996					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCCCAGCTGCGAGGTCCACC	0.547																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2986-2988)tgC>tgT		cache domain containing 1		C		0,4406		0,0,2203	124.0	121.0	122.0		2835	-6.5	0.9	1	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACHD1	NM_020925.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		945/1224	65142590	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57685				calcium ion transport	integral to membrane		g.chr1:65142590C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2988C>T	1.37:g.65142590C>T						CACHD1_ENST00000290039.5_Silent_p.C945C|CACHD1_ENST00000495994.1_3'UTR	p.C996C			Q5VU97	CAHD1_HUMAN			22	2988	+			996					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37	c.2988C>T																																																																																					0.547	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		27	198	0	0	0	1	0	27	198				
EVL	51466	broad.mit.edu	37	14	100613237	100613237	+	IGR	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr14:100613237T>G	ENST00000402714.2	+	0	2353				DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D|DEGS2_ENST00000557117.1_5'Flank|DEGS2_ENST00000305631.5_Missense_Mutation_p.K278T			Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGGCGCGATCTTCCGCACCTG	0.657																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(832-834)aAg>aCg		delta(4)-desaturase, sphingolipid 2							76.0	77.0	77.0					14																	100613237		2203	4300	6503	SO:0001628	intergenic_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100613237T>G	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530		14.37:g.100613237T>G						DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D	p.K278T	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			3	1408	-		Melanoma(154;0.212)	278					A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.833A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.044297|4.044297	0.75732|0.75732	.|.	.|.	ENSG00000168350|ENSG00000168350	ENST00000553834|ENST00000305631	T|T	0.47869|0.18016	0.83|2.24	4.86|4.86	3.68|3.68	0.42216|0.42216	.|Fatty acid desaturase, type 1 (1);	.|0.316615	.|0.36303	.|N	.|0.002674	T|T	0.24160|0.24160	0.0585|0.0585	M|M	0.85710|0.85710	2.77|2.77	0.09310|0.09310	N|N	0.999999|0.999999	.|P	.|0.36354	.|0.549	.|B	.|0.34038	.|0.174	T|T	0.17868|0.17868	-1.0355|-1.0355	6|10	.|0.72032	.|D	.|0.01	-14.7995|-14.7995	11.0019|11.0019	0.47611|0.47611	0.1395:0.0:0.0:0.8605|0.1395:0.0:0.0:0.8605	.|.	.|278	.|Q6QHC5	.|DEGS2_HUMAN	D|T	30|278	ENSP00000450637:E30D|ENSP00000307126:K278T	.|ENSP00000307126:K278T	E|K	-|-	3|2	2|0	DEGS2|DEGS2	99682990|99682990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	3.236000|3.236000	0.51336|0.51336	0.675000|0.675000	0.31264|0.31264	0.459000|0.459000	0.35465|0.35465	GAA|AAG		0.657	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			7	87	0	0	0	1	0	7	87				
MOXD1	26002	broad.mit.edu	37	6	132645229	132645229	+	Silent	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:132645229T>G	ENST00000367963.3	-	7	1072	c.954A>C	c.(952-954)atA>atC	p.I318I	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I250I	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	318						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CAGAATTATCTATTAAGCCTA	0.348																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(952-954)atA>atC		monooxygenase, DBH-like 1							86.0	88.0	87.0					6																	132645229		2203	4300	6503	SO:0001819	synonymous_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132645229T>G	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.954A>C	6.37:g.132645229T>G						MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I250I	p.I318I	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	7	1072	-	Breast(56;0.0495)		318					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	c.954A>C	CCDS5152.2																																																																																				0.348	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		5	65	0	0	0	1	0	5	65				
MKL1	57591	broad.mit.edu	37	22	40816901	40816901	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr22:40816901C>G	ENST00000355630.3	-	10	1421	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H|MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000396617.3_Missense_Mutation_p.Q277H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	277	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCTGCTGGTTGAGGA	0.657			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(829-831)caG>caC		megakaryoblastic leukemia (translocation) 1							62.0	63.0	62.0					22																	40816901		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816901C>G	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.831G>C	22.37:g.40816901C>G	ENSP00000347847:p.Gln277His					MKL1_ENST00000355630.3_Missense_Mutation_p.Q277H|MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H	p.Q277H			Q969V6	MKL1_HUMAN			10	1421	-			277			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.831G>C	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766193	0.69878	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.61859	0.16;0.11;0.07;0.16	5.26	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.77616	2.38	0.48696	D	0.999692	P;D;P	0.67145	0.787;0.996;0.787	B;D;B	0.75484	0.294;0.986;0.294	T	0.75385	-0.3336	10	0.66056	D	0.02	-15.2355	9.9937	0.41887	0.0:0.8449:0.0:0.1551	.	227;277;277	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	H	277;277;227;277	ENSP00000347847:Q277H;ENSP00000379861:Q277H;ENSP00000385584:Q227H;ENSP00000385835:Q277H	ENSP00000347847:Q277H	Q	-	3	2	MKL1	39146847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.270000	0.51600	1.210000	0.43336	0.462000	0.41574	CAG		0.657	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		3	62	0	0	0	1	0	3	62				
ERBB3	2065	broad.mit.edu	37	12	56481660	56481660	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:56481660C>T	ENST00000267101.3	+	6	1135	c.695C>T	c.(694-696)gCc>gTc	p.A232V	ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	232					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GATGAGTGTGCCGGGGGCTGC	0.547																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(694-696)gCc>gTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							142.0	137.0	138.0					12																	56481660		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481660C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.695C>T	12.37:g.56481660C>T	ENSP00000267101:p.Ala232Val					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V	p.A232V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	1135	+			232					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.695C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561038	0.96527	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.84223	-1.82;-1.82	5.69	5.69	0.88448	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000005	D	0.93733	0.7997	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.94397	0.7619	10	0.87932	D	0	.	18.5835	0.91180	0.0:1.0:0.0:0.0	.	232	P21860	ERBB3_HUMAN	V	232;232;173	ENSP00000267101:A232V;ENSP00000408340:A173V	ENSP00000267101:A232V	A	+	2	0	ERBB3	54767927	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.481000	0.81124	2.685000	0.91497	0.655000	0.94253	GCC		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			9	201	0	0	0	1	0	9	201				
LRPPRC	10128	broad.mit.edu	37	2	44121719	44121719	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:44121719T>C	ENST00000260665.7	-	36	4007	c.3950A>G	c.(3949-3951)aAg>aGg	p.K1317R	RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1317	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTTCTTCCTTTTCATTTAA	0.269																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(3949-3951)aAg>aGg		leucine-rich pentatricopeptide repeat containing							69.0	74.0	72.0					2																	44121719		2202	4282	6484	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44121719T>C	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3950A>G	2.37:g.44121719T>C	ENSP00000260665:p.Lys1317Arg						p.K1317R	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			36	4007	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1317			RNA-binding.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.3950A>G	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	8.258	0.810430	0.16537	.	.	ENSG00000138095	ENST00000260665;ENST00000419884	T	0.12984	2.63	5.84	2.17	0.27698	.	0.466130	0.23213	N	0.050649	T	0.07098	0.0180	L	0.31664	0.95	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.34601	-0.9822	10	0.17369	T	0.5	-7.4497	1.6592	0.02787	0.1242:0.2115:0.3539:0.3104	.	1317	P42704	LPPRC_HUMAN	R	1317;64	ENSP00000260665:K1317R	ENSP00000260665:K1317R	K	-	2	0	LRPPRC	43975223	0.000000	0.05858	0.031000	0.17742	0.004000	0.04260	0.062000	0.14389	0.448000	0.26722	0.528000	0.53228	AAG		0.269	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		3	81	0	0	0	1	0	3	81				
PRKAG1	5571	broad.mit.edu	37	12	49398943	49398943	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:49398943C>A	ENST00000548065.1	-	6	771	c.315G>T	c.(313-315)caG>caT	p.Q105H	RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H|RP11-386G11.5_ENST00000547395.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	105					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GCTCATAGATCTGTACCTGAA	0.423																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(313-315)caG>caT		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							134.0	133.0	133.0					12																	49398943		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49398943C>A	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.315G>T	12.37:g.49398943C>A	ENSP00000447433:p.Gln105His					PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H	p.Q105H			P54619	AAKG1_HUMAN			6	771	-			105					B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.315G>T	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556501	0.45487	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696;ENST00000548950;ENST00000551121;ENST00000552463;ENST00000548857;ENST00000548605	D;D;D;D;D;D;D;D;D;D;D;T	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;0.48	6.07	3.21	0.36854	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.89322	0.6682	M	0.83603	2.65	0.50171	D	0.99985	B;B;B	0.32876	0.348;0.388;0.098	B;B;B	0.29524	0.103;0.048;0.019	D	0.85956	0.1467	10	0.66056	D	0.02	-13.834	9.7338	0.40376	0.0:0.7651:0.0:0.2349	.	105;114;105	B4E094;Q8N7V9;P54619	.;.;AAKG1_HUMAN	H	21;54;114;105;73;80;54;21;73;73;73;21	ENSP00000378599:Q21H;ENSP00000448873:Q54H;ENSP00000323867:Q114H;ENSP00000447433:Q105H;ENSP00000448972:Q73H;ENSP00000449121:Q80H;ENSP00000447671:Q54H;ENSP00000450112:Q21H;ENSP00000449637:Q73H;ENSP00000448251:Q73H;ENSP00000448739:Q73H;ENSP00000449104:Q21H	ENSP00000323867:Q114H	Q	-	3	2	PRKAG1	47685210	0.992000	0.36948	1.000000	0.80357	0.999000	0.98932	0.343000	0.19944	0.411000	0.25702	0.655000	0.94253	CAG		0.423	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		5	118	1	0	1	1	1	5	118				
GINS3	64785	broad.mit.edu	37	16	58437218	58437218	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:58437218T>C	ENST00000318129.5	+	2	611	c.403T>C	c.(403-405)Tcc>Ccc	p.S135P	GINS3_ENST00000328514.7_Intron|GINS3_ENST00000426538.2_Missense_Mutation_p.S174P	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	135					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCAGACATTTCCCAGTCTCT	0.517																																						ENST00000318129.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						c.(403-405)Tcc>Ccc		GINS complex subunit 3 (Psf3 homolog)							53.0	46.0	48.0					16																	58437218		2198	4300	6498	SO:0001583	missense	64785				DNA replication	nucleus		g.chr16:58437218T>C	BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.403T>C	16.37:g.58437218T>C	ENSP00000318196:p.Ser135Pro					GINS3_ENST00000426538.2_Missense_Mutation_p.S174P|GINS3_ENST00000328514.7_Intron	p.S135P	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN			2	611	+			135					B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	ENST00000318129.5	37	c.403T>C	CCDS10796.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269742	0.80469	.	.	ENSG00000181938	ENST00000426538;ENST00000318129	T;T	0.15372	2.43;2.43	5.86	5.86	0.93980	.	0.098090	0.64402	D	0.000002	T	0.25644	0.0624	L	0.33485	1.01	0.47276	D	0.999377	D;P	0.54601	0.967;0.948	P;P	0.58266	0.836;0.634	T	0.00961	-1.1499	10	0.59425	D	0.04	-4.0006	11.3464	0.49563	0.0:0.0:0.2484:0.7516	.	174;135	E9PB21;Q9BRX5	.;PSF3_HUMAN	P	174;135	ENSP00000401018:S174P;ENSP00000318196:S135P	ENSP00000318196:S135P	S	+	1	0	GINS3	56994719	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.475000	0.73582	2.367000	0.80283	0.528000	0.53228	TCC		0.517	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	NM_022770		11	29	0	0	0	1	0	11	29				
CNTD2	79935	broad.mit.edu	37	19	40730407	40730407	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:40730407G>A	ENST00000430325.2	-	3	549	c.501C>T	c.(499-501)tgC>tgT	p.C167C	CNTD2_ENST00000433940.1_Silent_p.C137C|CNTD2_ENST00000513948.1_Silent_p.C61C	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	167	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CGGGAAGCACGCACTCTTCCA	0.592																																						ENST00000430325.2																			0				lung(1)|prostate(1)	2						c.(499-501)tgC>tgT		cyclin N-terminal domain containing 2							178.0	196.0	190.0					19																	40730407		2203	4300	6503	SO:0001819	synonymous_variant	79935				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr19:40730407G>A	AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.501C>T	19.37:g.40730407G>A						CNTD2_ENST00000433940.1_Silent_p.C137C|CNTD2_ENST00000513948.1_Silent_p.C61C	p.C167C	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN			3	549	-			167					B4DX65	Silent	SNP	ENST00000430325.2	37	c.501C>T	CCDS12551.2																																																																																				0.592	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		9	486	0	0	0	1	0	9	486				
TOP2A	7153	broad.mit.edu	37	17	38567942	38567942	+	Silent	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:38567942T>C	ENST00000423485.1	-	8	1076	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	306					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCTGAAAGCCTTTTTCACTCA	0.318																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(916-918)aaA>aaG		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						117.0	108.0	111.0					17																	38567942		1845	4088	5933	SO:0001819	synonymous_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38567942T>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.918A>G	17.37:g.38567942T>C							p.K306K	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		8	1076	-		Breast(137;0.00328)	306					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	c.918A>G	CCDS45672.1																																																																																				0.318	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			3	77	0	0	0	1	0	3	77				
CD48	962	broad.mit.edu	37	1	160654785	160654785	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:160654785C>T	ENST00000368046.3	-	2	364	c.277G>A	c.(277-279)Gca>Aca	p.A93T	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.A93T	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	93	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTACAGTGCGCCACTCTGA	0.423																																						ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(277-279)Gca>Aca		CD48 molecule							167.0	164.0	165.0					1																	160654785		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654785C>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.277G>A	1.37:g.160654785C>T	ENSP00000357025:p.Ala93Thr					CD48_ENST00000368046.3_Missense_Mutation_p.A93T	p.A93T			P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	316	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		93			Ig-like C2-type 1.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.277G>A	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460558	0.26248	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.62498	0.02;0.02	3.59	-0.856	0.10697	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.110220	0.06745	N	0.778936	T	0.43010	0.1228	L	0.49350	1.555	0.09310	N	1	B;D;P	0.54047	0.402;0.964;0.912	B;P;P	0.48815	0.136;0.591;0.572	T	0.35847	-0.9772	10	0.54805	T	0.06	-3.3301	6.5366	0.22357	0.0:0.443:0.0:0.557	.	93;93;93	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	T	93	ENSP00000357025:A93T;ENSP00000357024:A93T	ENSP00000357024:A93T	A	-	1	0	CD48	158921409	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.603000	0.05674	-0.150000	0.11195	0.462000	0.41574	GCA		0.423	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		4	166	0	0	0	1	0	4	166				
TOPBP1	11073	broad.mit.edu	37	3	133358890	133358890	+	Missense_Mutation	SNP	C	C	T	rs376746791	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:133358890C>T	ENST00000260810.5	-	13	2277	c.2146G>A	c.(2146-2148)Gtt>Att	p.V716I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	716	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GCTATAGTAACGGCAGGTAAA	0.393								Other conserved DNA damage response genes					C|||	2	0.000399361	0.0	0.0	5008	,	,		18619	0.0		0.0	False		,,,				2504	0.002				Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(2146-2148)Gtt>Att	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1		C	ILE/VAL	0,3716		0,0,1858	76.0	74.0	75.0		2146	4.7	0.3	3		75	1,8205		0,1,4102	no	missense	TOPBP1	NM_007027.3	29	0,1,5960	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	716/1523	133358890	1,11921	1858	4103	5961	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133358890C>T	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2146G>A	3.37:g.133358890C>T	ENSP00000260810:p.Val716Ile						p.V716I	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			13	2277	-			716			BRCT 5.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.2146G>A	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164385	0.57476	0.0	1.22E-4	ENSG00000163781	ENST00000260810	D	0.92805	-3.11	5.59	4.71	0.59529	BRCT (4);	0.180469	0.47852	D	0.000215	D	0.90669	0.7073	L	0.60067	1.865	0.80722	D	1	P	0.44195	0.828	B	0.43018	0.405	D	0.90903	0.4770	10	0.51188	T	0.08	.	13.8843	0.63699	0.0:0.9272:0.0:0.0728	.	716	Q92547	TOPB1_HUMAN	I	716	ENSP00000260810:V716I	ENSP00000260810:V716I	V	-	1	0	TOPBP1	134841580	1.000000	0.71417	0.321000	0.25320	0.502000	0.33828	4.966000	0.63715	2.630000	0.89119	0.650000	0.86243	GTT		0.393	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		10	68	0	0	0	1	0	10	68				
DQX1	165545	broad.mit.edu	37	2	74750268	74750268	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:74750268C>T	ENST00000404568.3	-	6	1341	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	DQX1_ENST00000393951.2_Silent_p.L374L|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	374	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCTTGCTCGCAATCGTCTTG	0.507																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1120-1122)ttG>ttA		DEAQ box RNA-dependent ATPase 1							182.0	179.0	180.0					2																	74750268		2203	4300	6503	SO:0001819	synonymous_variant	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750268C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1122G>A	2.37:g.74750268C>T						DQX1_ENST00000393951.2_Silent_p.L374L	p.L374L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			6	1341	-			374			Helicase C-terminal.		Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.1122G>A	CCDS1949.2																																																																																				0.507	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		7	193	0	0	0	1	0	7	193				
SPTA1	6708	broad.mit.edu	37	1	158627418	158627418	+	Missense_Mutation	SNP	C	C	T	rs370989483		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:158627418C>T	ENST00000368147.4	-	19	2834	c.2654G>A	c.(2653-2655)cGt>cAt	p.R885H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	885					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTCGAGCACGGAGAGACTC	0.468																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2653-2655)cGt>cAt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	HIS/ARG	4,3996		0,4,1996	166.0	162.0	163.0		2654	-0.4	0.0	1		163	1,8367		0,1,4183	no	missense	SPTA1	NM_003126.2	29	0,5,6179	TT,TC,CC		0.012,0.1,0.0404	benign	885/2420	158627418	5,12363	2000	4184	6184	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627418C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2654G>A	1.37:g.158627418C>T	ENSP00000357129:p.Arg885His					SPTA1_ENST00000368147.3_Missense_Mutation_p.R885H	p.R885H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			19	2834	-	all_hematologic(112;0.0378)		885					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2654G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.645	1.140129	0.21205	0.001	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	4.67	-0.359	0.12571	.	1.560760	0.04732	N	0.421205	T	0.17408	0.0418	L	0.39898	1.24	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.23762	-1.0179	10	0.24483	T	0.36	.	9.0397	0.36309	0.0:0.2422:0.0:0.7578	.	885	P02549	SPTA1_HUMAN	H	885	ENSP00000357130:R885H;ENSP00000357129:R885H	ENSP00000357129:R885H	R	-	2	0	SPTA1	156894042	1.000000	0.71417	0.007000	0.13788	0.143000	0.21401	1.879000	0.39618	-0.123000	0.11745	0.655000	0.94253	CGT		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		15	187	0	0	0	1	0	15	187				
MAK	4117	broad.mit.edu	37	6	10784683	10784683	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:10784683T>C	ENST00000313243.2	-	11	1821	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C	MAK_ENST00000474039.1_Missense_Mutation_p.Y480C|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	480					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTGTTTCAAGTAGTACTGTTT	0.418																																						ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(1438-1440)tAc>tGc		male germ cell-associated kinase							137.0	129.0	132.0					6																	10784683		2203	4300	6503	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10784683T>C		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1439A>G	6.37:g.10784683T>C	ENSP00000313021:p.Tyr480Cys					MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.Y480C	p.Y480C			P20794	MAK_HUMAN			11	1821	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	480					F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.1439A>G	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735008	0.69189	.	.	ENSG00000111837	ENST00000313243;ENST00000354489	D;D	0.83837	-1.77;-1.77	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.88592	0.6478	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90409	0.4408	10	0.87932	D	0	.	12.9447	0.58365	0.0:0.0:0.0:1.0	.	480	P20794	MAK_HUMAN	C	480	ENSP00000313021:Y480C;ENSP00000346484:Y480C	ENSP00000313021:Y480C	Y	-	2	0	MAK	10892669	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.956000	0.63645	1.889000	0.54706	0.460000	0.39030	TAC		0.418	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		6	84	0	0	0	1	0	6	84				
PI16	221476	broad.mit.edu	37	6	36931339	36931339	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:36931339C>T	ENST00000373674.3	+	5	1549	c.1221C>T	c.(1219-1221)acC>acT	p.T407T	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	407					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTCTGCCACCGCTAATGCCA	0.612																																						ENST00000373674.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1219-1221)acC>acT		peptidase inhibitor 16							58.0	60.0	59.0					6																	36931339		2203	4300	6503	SO:0001819	synonymous_variant	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36931339C>T		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.1221C>T	6.37:g.36931339C>T						PI16_ENST00000491324.1_Intron	p.T407T	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN			5	1549	+			407					Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Silent	SNP	ENST00000373674.3	37	c.1221C>T	CCDS34440.1																																																																																				0.612	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		4	110	0	0	0	1	0	4	110				
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGGAGGAATTTGTACAGA	0.393													a|||	49	0.00978435	0.0159	0.0043	5008	,	,		10804	0.004		0.005	False		,,,				2504	0.0164					ENST00000335568.5																			1	Substitution - coding silent(1)	p.E294E(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(880-882)gaA>gaG		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)	G	,	12,4124		0,12,2056	125.0	143.0	138.0		882,882	-1.6	0.9	4	dbSNP_134	138	9,8499		0,9,4245	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	0,21,6301	GG,GA,AA		0.1058,0.2901,0.1661	,	294/336,294/530	70152481	21,12623	2068	4254	6322	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152481A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.882A>G	4.37:g.70152481A>G						UGT2B28_ENST00000511240.1_Silent_p.E294E	p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	884	+			294					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.882A>G	CCDS3528.1																																																																																				0.393	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		5	153	0	0	0	1	0	5	153				
GCSAML	148823	broad.mit.edu	37	1	247712451	247712451	+	5'UTR	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:247712451G>T	ENST00000366488.4	+	0	62				GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Missense_Mutation_p.W107L|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000536561.1_5'UTR	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like																		TTCCCCAAGTGGAGTGAAACT	0.517																																						ENST00000366490.3																			0											c.(319-321)tGg>tTg		germinal center-associated, signaling and motility-like							71.0	68.0	69.0					1																	247712451		2203	4300	6503	SO:0001623	5_prime_UTR_variant	148823							g.chr1:247712451G>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.-43G>T	1.37:g.247712451G>T						GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000536561.1_5'UTR	p.W107L							4	478	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.320G>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	G	6.255	0.415155	0.11870	.	.	ENSG00000169224	ENST00000366490	.	.	.	2.44	-0.632	0.11523	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.22317	N	0.999205	.	.	.	.	.	.	T	0.38286	-0.9668	5	0.87932	D	0	.	3.0993	0.06320	0.2889:0.2305:0.4806:0.0	.	.	.	.	L	107	.	ENSP00000355446:W107L	W	+	2	0	C1orf150	245779074	0.063000	0.20901	0.000000	0.03702	0.012000	0.07955	0.884000	0.28214	-0.144000	0.11314	-1.239000	0.01543	TGG		0.517	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		3	53	1	0	1	1	1	3	53				
FAM199X	139231	broad.mit.edu	37	X	103432835	103432835	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chrX:103432835G>A	ENST00000493442.1	+	5	1010	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	282	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CAGTGCCAGCGCCAGCAGCAG	0.567																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(844-846)Gcc>Acc		family with sequence similarity 199, X-linked							106.0	97.0	100.0					X																	103432835		2203	4300	6503	SO:0001583	missense	139231							g.chrX:103432835G>A	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.844G>A	X.37:g.103432835G>A	ENSP00000417581:p.Ala282Thr					FAM199X_ENST00000299906.5_3'UTR	p.A282T	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN			5	1010	+			282			Ser-rich.		Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.844G>A	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716669	0.30413	.	.	ENSG00000123575	ENST00000493442	T	0.45668	0.89	5.15	5.15	0.70609	.	0.517672	0.19964	N	0.102141	T	0.24470	0.0593	N	0.08118	0	0.35979	D	0.835852	B;B	0.25743	0.001;0.133	B;B	0.17433	0.001;0.018	T	0.20009	-1.0288	9	.	.	.	-3.0162	16.8491	0.85989	0.0:0.0:1.0:0.0	.	282;282	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	T	282	ENSP00000417581:A282T	.	A	+	1	0	FAM199X	103319491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.979000	0.76154	2.270000	0.75569	0.506000	0.49869	GCC		0.567	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		4	76	0	0	0	1	0	4	76				
PPP2R2B	5521	broad.mit.edu	37	5	146070770	146070770	+	Missense_Mutation	SNP	C	C	T	rs374783257		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:146070770C>T	ENST00000394413.3	-	4	938	c.368G>A	c.(367-369)cGt>cAt	p.R123H	PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R126H|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R123H|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R123H|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R129H|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R189H|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R123H|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R181H			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	123					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTTATCACGCTCGCTGAC	0.507																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(367-369)cGt>cAt		protein phosphatase 2, regulatory subunit B, beta		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	103.0	101.0		368,368,368,368,377,308,335	5.8	1.0	5		101	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	123/444,123/444,123/444,123/444,126/447,103/424,112/433	146070770	1,13005	2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146070770C>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.368G>A	5.37:g.146070770C>T	ENSP00000377935:p.Arg123His					PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R126H|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R129H|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R189H|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R181H|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R123H|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R123H|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R123H	p.R123H			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	938	-			123					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.368G>A	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567848	0.96540	2.27E-4	0.0	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.79805	2.47	0.80722	D	1	D;D;D;P;P;D	0.76494	0.999;0.999;0.999;0.58;0.793;0.999	D;P;P;B;B;P	0.64144	0.922;0.896;0.896;0.174;0.072;0.896	T	0.62248	-0.6894	10	0.87932	D	0	-32.0461	20.1577	0.98120	0.0:1.0:0.0:0.0	.	181;129;112;189;126;123	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	H	123;112;189;123;123;123;112;126;129;181	ENSP00000377935:R123H;ENSP00000431320:R112H;ENSP00000377936:R189H;ENSP00000377933:R123H;ENSP00000349283:R123H;ENSP00000398779:R123H;ENSP00000377932:R112H;ENSP00000336591:R126H;ENSP00000421396:R129H;ENSP00000377931:R181H	ENSP00000336591:R126H	R	-	2	0	AC011357.1	146050963	1.000000	0.71417	0.972000	0.41901	0.984000	0.73092	7.461000	0.80834	2.767000	0.95098	0.655000	0.94253	CGT		0.507	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		7	67	0	0	0	1	0	7	67				
RANBP2	5903	broad.mit.edu	37	2	109365452	109365452	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:109365452C>T	ENST00000283195.6	+	9	1266	c.1140C>T	c.(1138-1140)agC>agT	p.S380S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	380					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAACAAAAGCGGGCAGTCTG	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1138-1140)agC>agT		RAN binding protein 2							183.0	199.0	194.0					2																	109365452		2203	4300	6503	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365452C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1140C>T	2.37:g.109365452C>T							p.S380S	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1266	+			380					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.1140C>T	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	232	0	0	0	1	0	6	232				
NLRC5	84166	broad.mit.edu	37	16	57088675	57088675	+	Silent	SNP	G	G	A	rs148506460		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:57088675G>A	ENST00000262510.6	+	25	3744	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Silent_p.T1173T|NLRC5_ENST00000539144.1_Silent_p.T1173T|NLRC5_ENST00000436936.1_Silent_p.T1173T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1173					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGAGCCAGACGGGACTGTCCC	0.592																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3517-3519)acG>acA		NLR family, CARD domain containing 5		G		1,4395	2.1+/-5.4	0,1,2197	195.0	204.0	201.0		3519	-9.8	0.0	16	dbSNP_134	201	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRC5	NM_032206.3		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		1173/1867	57088675	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57088675G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3519G>A	16.37:g.57088675G>A						RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Silent_p.T1173T|NLRC5_ENST00000539144.1_Silent_p.T1173T|NLRC5_ENST00000262510.6_Silent_p.T1173T	p.T1173T			Q86WI3	NLRC5_HUMAN			25	3744	+		all_neural(199;0.225)	1173					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.3519G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	3.387	-0.125202	0.06795	2.27E-4	1.16E-4	ENSG00000140853	ENST00000538805	.	.	.	4.88	-9.77	0.00500	.	.	.	.	.	T	0.16214	0.0390	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10474	-1.0628	4	.	.	.	.	3.2921	0.06953	0.5325:0.181:0.1144:0.1721	.	.	.	.	R	926	.	.	G	+	1	0	NLRC5	55646176	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.067000	0.01383	-2.711000	0.00393	-0.252000	0.11476	GGG		0.592	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		5	410	0	0	0	1	0	5	410				
SPTBN5	51332	broad.mit.edu	37	15	42147470	42147470	+	Silent	SNP	C	C	T	rs374155015		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:42147470C>T	ENST00000320955.6	-	55	9602	c.9375G>A	c.(9373-9375)gcG>gcA	p.A3125A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3125					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGCGGTGGCCGCCTTGGTGG	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		16441	0.001		0.0	False		,,,				2504	0.0					ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(9373-9375)gcG>gcA		spectrin, beta, non-erythrocytic 5		C		1,4035		0,1,2017	20.0	25.0	23.0		9270	3.4	0.0	15		23	4,8298		0,4,4147	no	coding-synonymous	SPTBN5	NM_016642.2		0,5,6164	TT,TC,CC		0.0482,0.0248,0.0405		3090/3640	42147470	5,12333	2018	4151	6169	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42147470C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9375G>A	15.37:g.42147470C>T							p.A3125A	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	55	9602	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3125						Silent	SNP	ENST00000320955.6	37	c.9375G>A																																																																																					0.677	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		3	44	0	0	0	1	0	3	44				
ZNF443	10224	broad.mit.edu	37	19	12542283	12542283	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:12542283A>G	ENST00000301547.5	-	4	900	c.703T>C	c.(703-705)Tct>Cct	p.S235P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	235					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGTAAAAAGAAAAGGCTTTA	0.378																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(703-705)Tct>Cct		zinc finger protein 443							126.0	131.0	129.0					19																	12542283		2203	4297	6500	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542283A>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.703T>C	19.37:g.12542283A>G	ENSP00000301547:p.Ser235Pro					CTD-3105H18.16_ENST00000595562.1_Intron	p.S235P	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	900	-			235						Missense_Mutation	SNP	ENST00000301547.5	37	c.703T>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	A	9.982	1.228421	0.22542	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07688	3.17	1.14	-2.27	0.06846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	L	0.43701	1.375	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.37957	-0.9683	9	0.38643	T	0.18	.	0.917	0.01307	0.1632:0.1613:0.3196:0.3559	.	235	Q9Y2A4	ZN443_HUMAN	P	235	ENSP00000301547:S235P	ENSP00000301547:S235P	S	-	1	0	ZNF443	12403283	0.000000	0.05858	0.001000	0.08648	0.618000	0.37518	-1.539000	0.02202	-2.594000	0.00455	-1.868000	0.00555	TCT		0.378	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		3	180	0	0	0	1	0	3	180				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.C595Y(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		nuclear factor, erythroid 2-like 3							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225102G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2043	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			3	37	0	0	0	1	0	3	37				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	21	0	0	0	1	0	3	21				
PCDHB14	56122	broad.mit.edu	37	5	140605164	140605164	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:140605164C>T	ENST00000239449.4	+	1	2087	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	696					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATTGGCCTCGGTGTCGTCG	0.711																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2086-2088)tCg>tTg									85.0	95.0	92.0					5																	140605164		2199	4295	6494	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605164C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2087C>T	5.37:g.140605164C>T	ENSP00000239449:p.Ser696Leu					PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	p.S696L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2087	+			696					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.2087C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	15.46	2.839050	0.51057	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.07114	3.22;3.22	4.17	4.17	0.49024	.	.	.	.	.	T	0.12860	0.0312	M	0.77820	2.39	0.09310	N	1	B	0.28208	0.203	B	0.20184	0.028	T	0.08289	-1.0729	9	0.87932	D	0	.	10.2954	0.43620	0.0:0.9058:0.0:0.0942	.	696	Q9Y5E9	PCDBE_HUMAN	L	543;696	ENSP00000444518:S543L;ENSP00000239449:S696L	ENSP00000239449:S696L	S	+	2	0	PCDHB14	140585348	0.000000	0.05858	0.059000	0.19551	0.051000	0.14879	-0.789000	0.04609	2.022000	0.59522	0.650000	0.86243	TCG		0.711	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		4	203	0	0	0	1	0	4	203				
HS3ST2	9956	broad.mit.edu	37	16	22926769	22926769	+	Silent	SNP	A	A	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:22926769A>G	ENST00000261374.3	+	2	1424	c.990A>G	c.(988-990)aaA>aaG	p.K330K		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	330					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCAAATCAAAAGGGAGAACTC	0.418																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(988-990)aaA>aaG		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							141.0	155.0	150.0					16																	22926769		2197	4300	6497	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926769A>G	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.990A>G	16.37:g.22926769A>G							p.K330K	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1424	+			330					Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.990A>G	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	A	8.192	0.796126	0.16327	.	.	ENSG00000122254	ENST00000540146	.	.	.	5.2	1.73	0.24493	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16247	-1.0409	5	0.02654	T	1	.	8.3589	0.32346	0.5606:0.0:0.4394:0.0	.	.	.	.	G	338	.	ENSP00000437678:R338G	R	+	1	2	HS3ST2	22834270	1.000000	0.71417	0.970000	0.41538	0.969000	0.65631	0.892000	0.28322	0.022000	0.15160	-0.379000	0.06801	AGG		0.418	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		4	201	0	0	0	1	0	4	201				
ZER1	10444	broad.mit.edu	37	9	131517732	131517732	+	Missense_Mutation	SNP	G	G	A	rs540575103		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr9:131517732G>A	ENST00000291900.2	-	2	519	c.113C>T	c.(112-114)cCg>cTg	p.P38L	ZER1_ENST00000494461.1_Intron	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	38					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.P38L(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GAAGATGTCCGGATGTAGCCG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		22002	0.001		0.0	False		,,,				2504	0.0					ENST00000291900.2																			1	Substitution - Missense(1)	p.P38L(1)	large_intestine(1)	endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(112-114)cCg>cTg		zyg-11 related, cell cycle regulator							138.0	122.0	128.0					9																	131517732		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131517732G>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.113C>T	9.37:g.131517732G>A	ENSP00000291900:p.Pro38Leu					ZER1_ENST00000494461.1_Intron	p.P38L	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			2	519	-			38					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.113C>T	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005370	0.93287	.	.	ENSG00000160445	ENST00000291900;ENST00000414921;ENST00000427848	T	0.44482	0.92	5.51	5.51	0.81932	.	0.053208	0.85682	D	0.000000	T	0.41003	0.1140	L	0.29908	0.895	0.80722	D	1	D	0.58268	0.982	P	0.47102	0.537	T	0.16305	-1.0407	10	0.41790	T	0.15	-15.6742	18.7539	0.91825	0.0:0.0:1.0:0.0	.	38	Q7Z7L7	ZER1_HUMAN	L	38	ENSP00000291900:P38L	ENSP00000291900:P38L	P	-	2	0	ZER1	130557553	1.000000	0.71417	0.972000	0.41901	0.970000	0.65996	9.148000	0.94652	2.745000	0.94114	0.655000	0.94253	CCG		0.587	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		4	174	0	0	0	1	0	4	174				
ZNF443	10224	broad.mit.edu	37	19	12542283	12542283	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:12542283A>G	ENST00000301547.5	-	4	900	c.703T>C	c.(703-705)Tct>Cct	p.S235P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	235					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGTAAAAAGAAAAGGCTTTA	0.378																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(703-705)Tct>Cct		zinc finger protein 443							126.0	131.0	129.0					19																	12542283		2203	4297	6500	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542283A>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.703T>C	19.37:g.12542283A>G	ENSP00000301547:p.Ser235Pro					CTD-3105H18.16_ENST00000595562.1_Intron	p.S235P	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	900	-			235						Missense_Mutation	SNP	ENST00000301547.5	37	c.703T>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	A	9.982	1.228421	0.22542	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07688	3.17	1.14	-2.27	0.06846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	L	0.43701	1.375	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.37957	-0.9683	9	0.38643	T	0.18	.	0.917	0.01307	0.1632:0.1613:0.3196:0.3559	.	235	Q9Y2A4	ZN443_HUMAN	P	235	ENSP00000301547:S235P	ENSP00000301547:S235P	S	-	1	0	ZNF443	12403283	0.000000	0.05858	0.001000	0.08648	0.618000	0.37518	-1.539000	0.02202	-2.594000	0.00455	-1.868000	0.00555	TCT		0.378	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		3	180	0	0	0	1	0	3	180				
CDH11	1009	broad.mit.edu	37	16	64984879	64984879	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr16:64984879C>T	ENST00000268603.4	-	12	2300	c.1685G>A	c.(1684-1686)cGg>cAg	p.R562Q	CDH11_ENST00000566827.1_Missense_Mutation_p.R436Q|CDH11_ENST00000394156.3_Missense_Mutation_p.R562Q	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGCTTCTGCCGACTGAACCC	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1684-1686)cGg>cAg		cadherin 11, type 2, OB-cadherin (osteoblast)							73.0	67.0	69.0					16																	64984879		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984879C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1685G>A	16.37:g.64984879C>T	ENSP00000268603:p.Arg562Gln	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Missense_Mutation_p.R436Q|CDH11_ENST00000268603.4_Missense_Mutation_p.R562Q	p.R562Q			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2138	-		Ovarian(137;0.0973)	562			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1685G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802397	0.96960	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.65732	1.69;-0.17	5.55	5.55	0.83447	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.71206	2.165	0.80722	D	1	D;P	0.89917	1.0;0.888	D;B	0.83275	0.996;0.271	T	0.78033	-0.2362	10	0.44086	T	0.13	.	18.497	0.90869	0.0:1.0:0.0:0.0	.	562;562	P55287-2;P55287	.;CAD11_HUMAN	Q	562;562;545	ENSP00000268603:R562Q;ENSP00000377711:R562Q	ENSP00000268603:R562Q	R	-	2	0	CDH11	63542380	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.899000	0.69846	2.594000	0.87642	0.655000	0.94253	CGG		0.597	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		4	54	0	0	0	1	0	4	54				
CCL28	56477	broad.mit.edu	37	5	43382044	43382044	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr5:43382044C>A	ENST00000361115.4	-	3	376	c.302G>T	c.(301-303)aGg>aTg	p.R101M	CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	101					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)			kidney(3)|lung(3)|ovary(1)	7						GTGTTTCTTCCTGTGGCAAAC	0.443																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)	ENST00000361115.4																			0				kidney(3)|lung(3)|ovary(1)	7						c.(301-303)aGg>aTg		chemokine (C-C motif) ligand 28							306.0	255.0	272.0					5																	43382044		2203	4300	6503	SO:0001583	missense	56477				chemotaxis|immune response	extracellular space	chemokine activity	g.chr5:43382044C>A	AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"""Chemokine ligands"", ""Endogenous ligands"""	17700	protein-coding gene	gene with protein product	"""CC chemokine CCL28"", ""mucosae-associated epithelial chemokine"", ""small inducible cytokine subfamily A (Cys-Cys), member 28"", ""small inducible cytokine A28"""	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.302G>T	5.37:g.43382044C>A	ENSP00000354416:p.Arg101Met					CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	p.R101M	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN			3	376	-			101					D7RIE7	Missense_Mutation	SNP	ENST00000361115.4	37	c.302G>T	CCDS3944.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438112	0.25900	.	.	ENSG00000151882	ENST00000361115;ENST00000513525	T;T	0.03920	3.76;3.76	5.07	-0.0534	0.13818	Chemokine interleukin-8-like domain (1);	0.780947	0.11589	N	0.548949	T	0.02571	0.0078	N	0.14661	0.345	0.36218	D	0.851837	B	0.11235	0.004	B	0.08055	0.003	T	0.42413	-0.9453	10	0.72032	D	0.01	0.0532	0.3881	0.00406	0.1899:0.2086:0.1741:0.4273	.	101	Q9NRJ3	CCL28_HUMAN	M	101;54	ENSP00000354416:R101M;ENSP00000422369:R54M	ENSP00000354416:R101M	R	-	2	0	CCL28	43417801	0.032000	0.19561	0.131000	0.22000	0.404000	0.30871	-0.031000	0.12287	-0.145000	0.11294	-0.302000	0.09304	AGG		0.443	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211631.2	NM_148672		5	175	1	0	0.184627	1	0.189186	5	175				
IREB2	3658	broad.mit.edu	37	15	78790472	78790472	+	Missense_Mutation	SNP	G	G	A	rs375120202		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr15:78790472G>A	ENST00000258886.8	+	22	3028	c.2879G>A	c.(2878-2880)cGa>cAa	p.R960Q		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	960					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTTGTGGCACGAAAATTCTCA	0.388																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2878-2880)cGa>cAa		iron-responsive element binding protein 2		G	GLN/ARG	0,4392		0,0,2196	122.0	112.0	116.0		2879	6.0	1.0	15		116	1,8585	1.2+/-3.3	0,1,4292	no	missense	IREB2	NM_004136.2	43	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	960/964	78790472	1,12977	2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78790472G>A	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2879G>A	15.37:g.78790472G>A	ENSP00000258886:p.Arg960Gln						p.R960Q	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	22	3028	+			960					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.2879G>A	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515356	0.96402	0.0	1.16E-4	ENSG00000136381	ENST00000258886	T	0.23950	1.88	5.98	5.98	0.97165	Aconitase/3-isopropylmalate dehydratase, swivel (1);	0.120552	0.64402	D	0.000019	T	0.53433	0.1796	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50709	-0.8796	10	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	960	P48200	IREB2_HUMAN	Q	960	ENSP00000258886:R960Q	ENSP00000258886:R960Q	R	+	2	0	IREB2	76577527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.859000	0.86982	2.838000	0.97847	0.591000	0.81541	CGA		0.388	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		5	80	0	0	0	1	0	5	80				
PCNX	22990	broad.mit.edu	37	14	71500674	71500674	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr14:71500674C>A	ENST00000304743.2	+	18	4141	c.3695C>A	c.(3694-3696)cCa>cAa	p.P1232Q	PCNX_ENST00000439984.3_Missense_Mutation_p.P1121Q|PCNX_ENST00000238570.5_Missense_Mutation_p.P1232Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1232						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGATTTTTCCAAAAACGGAA	0.313																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3694-3696)cCa>cAa		pecanex homolog (Drosophila)							45.0	51.0	49.0					14																	71500674		2201	4292	6493	SO:0001583	missense	22990					integral to membrane		g.chr14:71500674C>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3695C>A	14.37:g.71500674C>A	ENSP00000304192:p.Pro1232Gln					PCNX_ENST00000238570.5_Missense_Mutation_p.P1232Q|PCNX_ENST00000439984.3_Missense_Mutation_p.P1121Q	p.P1232Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	18	4141	+			1232					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3695C>A	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.996590|3.996590	0.74818|0.74818	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.10382|.	3.29;3.27;2.88|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.105723|.	0.64402|.	D|.	0.000003|.	T|T	0.74846|0.74846	0.3770|0.3770	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.835;0.999;0.998|.	P;D;D|.	0.66196|.	0.607;0.942;0.928|.	T|T	0.74016|0.74016	-0.3800|-0.3800	10|5	0.52906|.	T|.	0.07|.	.|.	18.7492|18.7492	0.91807|0.91807	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1232;1121;1232|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	Q|K	1232;1232;1121|291	ENSP00000304192:P1232Q;ENSP00000238570:P1232Q;ENSP00000396617:P1121Q|.	ENSP00000238570:P1232Q|.	P|Q	+|+	2|1	0|0	PCNX|PCNX	70570427|70570427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.081000|7.081000	0.76844|0.76844	2.420000|2.420000	0.82092|0.82092	0.650000|0.650000	0.86243|0.86243	CCA|CAA		0.313	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		3	65	1	0	0.115264	1	0.119586	3	65				
KSR2	283455	broad.mit.edu	37	12	118298123	118298123	+	Silent	SNP	G	G	A	rs55997942	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr12:118298123G>A	ENST00000339824.5	-	2	1021	c.294C>T	c.(292-294)atC>atT	p.I98I	KSR2_ENST00000425217.1_Silent_p.I69I			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	98					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACATCGACGATTCGGAACC	0.632													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19481	0.002		0.0	False		,,,				2504	0.0					ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(205-207)atC>atT		kinase suppressor of ras 2							61.0	65.0	64.0					12																	118298123		1568	3582	5150	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118298123G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.294C>T	12.37:g.118298123G>A						KSR2_ENST00000339824.5_Silent_p.I98I	p.I69I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			2	261	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		98					A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.207C>T																																																																																					0.632	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		3	48	0	0	0	1	0	3	48				
FAM228A	653140	broad.mit.edu	37	2	24406452	24406452	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr2:24406452T>A	ENST00000295150.3	+	5	425	c.339T>A	c.(337-339)tgT>tgA	p.C113*	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	113																	CTTCACACTGTGTGATTCCAA	0.408																																						ENST00000295150.3																			0											c.(337-339)tgT>tgA		family with sequence similarity 228, member A							59.0	55.0	56.0					2																	24406452		1869	4111	5980	SO:0001587	stop_gained	653140							g.chr2:24406452T>A		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.339T>A	2.37:g.24406452T>A	ENSP00000295150:p.Cys113*					RP11-507M3.1_ENST00000584973.1_3'UTR	p.C113*	NM_001040710.1	NP_001035800.1					5	425	+									Nonsense_Mutation	SNP	ENST00000295150.3	37	c.339T>A	CCDS42659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.35|14.35	2.510584|2.510584	0.44660|0.44660	.|.	.|.	ENSG00000186453|ENSG00000186453	ENST00000295150;ENST00000415196|ENST00000432434	.|.	.|.	.|.	3.81|3.81	-7.62|-7.62	0.01294|0.01294	.|.	1.843360|.	0.02704|.	N|.	0.112108|.	.|T	.|0.18341	.|0.0440	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.13710	.|-1.0499	.|3	0.35671|.	T|.	0.21|.	1.1237|1.1237	4.1857|4.1857	0.10397|0.10397	0.1026:0.1199:0.2043:0.5732|0.1026:0.1199:0.2043:0.5732	.|.	.|.	.|.	.|.	X|E	113;14|151	.|.	ENSP00000295150:C113X|.	C|V	+|+	3|2	2|0	C2orf84|C2orf84	24259956|24259956	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.851000|-0.851000	0.04313|0.04313	-2.747000|-2.747000	0.00376|0.00376	-0.479000|-0.479000	0.04858|0.04858	TGT|GTG		0.408	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		3	43	0	0	0	1	0	3	43				
HNRNPCL1	343069	broad.mit.edu	37	1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:12908039G>A	ENST00000317869.6	-	2	329	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	35	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGAAAAGATCGCCTCCACATC	0.473																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(103-105)gCg>gTg		heterogeneous nuclear ribonucleoprotein C-like 1							171.0	158.0	163.0					1																	12908039		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12908039G>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.104C>T	1.37:g.12908039G>A	ENSP00000365370:p.Ala35Val						p.A35V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	329	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.104C>T	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.370748	0.42003	.	.	ENSG00000179172	ENST00000317869	T	0.17054	2.3	1.09	-1.27	0.09347	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.132742	0.49305	N	0.000153	T	0.09024	0.0223	L	0.34521	1.04	0.32473	N	0.542534	P	0.44195	0.828	B	0.37780	0.258	T	0.29212	-1.0019	10	0.33940	T	0.23	.	5.3693	0.16131	0.39:0.0:0.61:0.0	.	35	O60812	HNRCL_HUMAN	V	35	ENSP00000365370:A35V	ENSP00000365370:A35V	A	-	2	0	HNRNPCL1	12830626	1.000000	0.71417	0.004000	0.12327	0.045000	0.14185	4.843000	0.62838	-0.384000	0.07845	-0.505000	0.04504	GCG		0.473	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		6	184	0	0	0	1	0	6	184				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	7	0	0	0	1	0	2	7				
OGFOD1	55239	broad.mit.edu	37	16	56485625	56485625	+	Missense_Mutation	SNP	C	C	A	rs565164115	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr16:56485625C>A	ENST00000566157.1	+	1	224	c.101C>A	c.(100-102)aCc>aAc	p.T34N	NUDT21_ENST00000300291.5_5'Flank|OGFOD1_ENST00000568397.1_Missense_Mutation_p.T34N	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	34					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	ACGGAAGAAACCTTGAAAAAG	0.622													C|||	7	0.00139776	0.0	0.0	5008	,	,		16130	0.004		0.0	False		,,,				2504	0.0031					ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(100-102)aCc>aAc		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)						51.0	57.0	55.0					16																	56485625		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56485625C>A	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.101C>A	16.37:g.56485625C>A	ENSP00000457258:p.Thr34Asn					OGFOD1_ENST00000568397.1_Missense_Mutation_p.T34N	p.T34N	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			1	224	+			34					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.101C>A	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670701	0.29693	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.8	0.0252	0.14144	.	0.798993	0.11903	N	0.518393	T	0.28599	0.0708	L	0.43152	1.355	0.09310	N	1	B	0.21905	0.062	B	0.18263	0.021	T	0.23297	-1.0192	9	0.20519	T	0.43	-10.7747	5.3882	0.16229	0.0:0.5262:0.133:0.3408	.	34	Q8N543	OGFD1_HUMAN	N	34	.	ENSP00000337196:T34N	T	+	2	0	OGFOD1	55043126	0.002000	0.14202	0.058000	0.19502	0.982000	0.71751	0.448000	0.21726	0.026000	0.15269	0.563000	0.77884	ACC		0.622	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		11	51	1	0	6.40141e-05	1	7.17996e-05	11	51				
PIK3C2B	5287	broad.mit.edu	37	1	204409362	204409362	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:204409362G>A	ENST00000367187.3	-	23	3893	c.3337C>T	c.(3337-3339)Cgc>Tgc	p.R1113C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1113	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATGACCATGCGCATGTCCAGC	0.597																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3337-3339)Cgc>Tgc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							136.0	118.0	124.0					1																	204409362		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204409362G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3337C>T	1.37:g.204409362G>A	ENSP00000356155:p.Arg1113Cys					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085C	p.R1113C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		23	3893	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1113			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3337C>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665335	0.88251	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.78126	-1.15;-1.15	6.06	6.06	0.98353	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.048250	0.85682	D	0.000000	D	0.84800	0.5552	L	0.48362	1.52	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	P;D	0.63033	0.859;0.91	D	0.84949	0.0870	10	0.87932	D	0	.	20.2194	0.98323	0.0:0.0:1.0:0.0	.	1085;1113	F5GWN5;O00750	.;P3C2B_HUMAN	C	1113;1085	ENSP00000356155:R1113C;ENSP00000400561:R1085C	ENSP00000356155:R1113C	R	-	1	0	PIK3C2B	202675985	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.115000	0.57865	2.879000	0.98667	0.650000	0.86243	CGC		0.597	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		4	160	0	0	0	1	0	4	160				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	142	0	0	0	1	0	4	142				
CATSPERG	57828	broad.mit.edu	37	19	38858384	38858384	+	Silent	SNP	C	C	T	rs2302184		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:38858384C>T	ENST00000409235.3	+	25	3013	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D	CATSPERG_ENST00000410018.1_Silent_p.D926D|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	966					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAGTGAGGACGAAATCTACC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17275	0.0		0.0	False		,,,				2504	0.001					ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2896-2898)gaC>gaT		catsper channel auxiliary subunit gamma		C		0,4406		0,0,2203	227.0	238.0	234.0		2898	-3.5	0.3	19	dbSNP_100	234	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CATSPERG	NM_021185.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		966/1160	38858384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858384C>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2898C>T	19.37:g.38858384C>T						CATSPERG_ENST00000410018.1_Silent_p.D926D|CATSPERG_ENST00000215069.4_3'UTR	p.D966D	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			25	3013	+			966					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2898C>T	CCDS12514.2																																																																																				0.597	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		27	388	0	0	0	1	0	27	388				
GAD2	2572	broad.mit.edu	37	10	26513522	26513522	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr10:26513522G>T	ENST00000376261.3	+	6	1169	c.666G>T	c.(664-666)aaG>aaT	p.K222N	GAD2_ENST00000376248.1_Missense_Mutation_p.K108N|GAD2_ENST00000259271.3_Missense_Mutation_p.K222N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	222					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACACTAAAGAAAATGAGAG	0.378																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(664-666)aaG>aaT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						115.0	118.0	117.0					10																	26513522		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26513522G>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.666G>T	10.37:g.26513522G>T	ENSP00000365437:p.Lys222Asn					GAD2_ENST00000376248.1_Missense_Mutation_p.K108N|GAD2_ENST00000259271.3_Missense_Mutation_p.K222N	p.K222N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			6	1169	+			222					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.666G>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992243	0.54041	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000376248	T;T;T	0.35421	1.31;1.31;1.31	5.21	4.31	0.51392	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.246394	0.46758	D	0.000264	T	0.40645	0.1125	M	0.71920	2.185	0.80722	D	1	B	0.19706	0.038	B	0.24006	0.05	T	0.34527	-0.9825	10	0.52906	T	0.07	-19.4394	13.9159	0.63897	0.0735:0.0:0.9265:0.0	.	222	Q05329	DCE2_HUMAN	N	222;222;108	ENSP00000365437:K222N;ENSP00000259271:K222N;ENSP00000365424:K108N	ENSP00000259271:K222N	K	+	3	2	GAD2	26553528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.650000	0.61440	1.206000	0.43276	0.655000	0.94253	AAG		0.378	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		5	120	1	0	0.0293803	1	0.030868	5	120				
SLC22A23	63027	broad.mit.edu	37	6	3287259	3287259	+	Silent	SNP	C	C	A	rs149321576		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr6:3287259C>A	ENST00000406686.3	-	7	1379	c.1380G>T	c.(1378-1380)ccG>ccT	p.P460P	SLC22A23_ENST00000380302.4_Silent_p.P179P|SLC22A23_ENST00000490273.1_Silent_p.P179P|SLC22A23_ENST00000436008.2_Silent_p.P460P|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	460					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TCTCCAGGAGCGGCACCTTCA	0.632																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1378-1380)ccG>ccT		solute carrier family 22, member 23							149.0	103.0	118.0					6																	3287259		2203	4300	6503	SO:0001819	synonymous_variant	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3287259C>A	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1380G>T	6.37:g.3287259C>A						SLC22A23_ENST00000380302.4_Silent_p.P179P|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Silent_p.P460P|SLC22A23_ENST00000490273.1_Silent_p.P179P	p.P460P			A1A5C7	S22AN_HUMAN			7	1842	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	460					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	ENST00000406686.3	37	c.1380G>T	CCDS47363.1																																																																																				0.632	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		3	63	1	0	0.00909568	1	0.00967874	3	63				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	42	0	0	0	1	0	4	42				
NHS	4810	broad.mit.edu	37	X	17744786	17744786	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chrX:17744786C>T	ENST00000380060.3	+	6	2835	c.2497C>T	c.(2497-2499)Cgt>Tgt	p.R833C	NHS_ENST00000398097.3_Missense_Mutation_p.R677C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	854					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCCACCTAAACGTAGCTCATC	0.488																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(2497-2499)Cgt>Tgt		Nance-Horan syndrome (congenital cataracts and dental anomalies)							120.0	115.0	117.0					X																	17744786		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17744786C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2497C>T	X.37:g.17744786C>T	ENSP00000369400:p.Arg833Cys					NHS_ENST00000398097.3_Missense_Mutation_p.R677C	p.R833C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	2835	+	Hepatocellular(33;0.183)		833					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.2497C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487264	0.44249	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.81163	-1.46;-1.42	5.93	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.89894	0.6847	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	D	0.91111	0.4922	10	0.87932	D	0	-13.2308	15.5434	0.76074	0.1391:0.8609:0.0:0.0	.	854;675;677;833	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	C	833;677;675	ENSP00000369400:R833C;ENSP00000381170:R677C	ENSP00000369397:R675C	R	+	1	0	NHS	17654707	1.000000	0.71417	0.973000	0.42090	0.966000	0.64601	4.695000	0.61767	1.240000	0.43803	0.538000	0.68166	CGT		0.488	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		4	78	0	0	0	1	0	4	78				
DLEC1	9940	broad.mit.edu	37	3	38139333	38139333	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr3:38139333G>A	ENST00000308059.6	+	18	2685	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	DLEC1_ENST00000452631.2_Silent_p.Q888Q|DLEC1_ENST00000346219.3_Silent_p.Q888Q					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACGTCAGCCAGCTCCCAGCCA	0.597																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2662-2664)caG>caA		deleted in lung and esophageal cancer 1							58.0	65.0	63.0					3																	38139333		2143	4260	6403	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139333G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2664G>A	3.37:g.38139333G>A						DLEC1_ENST00000452631.2_Silent_p.Q888Q|DLEC1_ENST00000346219.3_Silent_p.Q888Q	p.Q888Q			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	18	2685	+			888						Silent	SNP	ENST00000308059.6	37	c.2664G>A	CCDS2672.2																																																																																				0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		3	76	0	0	0	1	0	3	76				
CEACAM1	634	broad.mit.edu	37	19	43026110	43026110	+	Silent	SNP	C	C	T	rs143281867		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:43026110C>T	ENST00000161559.6	-	3	803	c.669G>A	c.(667-669)gcG>gcA	p.A223A	CEACAM1_ENST00000308072.4_Silent_p.A183A|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000403444.3_Silent_p.A223A|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000352591.5_Silent_p.A223A|CEACAM1_ENST00000599389.1_Silent_p.A223A|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Silent_p.A223A|CEACAM1_ENST00000358394.3_Silent_p.A223A	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	223	Ig-like C2-type 1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CACTGCGGTTCGCACTCACTG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		20473	0.0		0.001	False		,,,				2504	0.0					ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(667-669)gcG>gcA		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)	C	,,,,,	0,4406		0,0,2203	202.0	180.0	188.0		669,669,669,669,669,669	-4.9	0.0	19	dbSNP_134	188	3,8597		0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CEACAM1	NM_001024912.2,NM_001184813.1,NM_001184815.1,NM_001184816.1,NM_001205344.1,NM_001712.4	,,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,,	223/465,223/431,223/462,223/369,223/469,223/527	43026110	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43026110C>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.669G>A	19.37:g.43026110C>T						LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000358394.3_Silent_p.A223A|CEACAM1_ENST00000403444.3_Silent_p.A223A|CEACAM1_ENST00000403461.1_Silent_p.A223A|CEACAM1_ENST00000352591.5_Silent_p.A223A|CEACAM1_ENST00000308072.4_Silent_p.A183A|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000599389.1_Silent_p.A223A	p.A223A	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	3	803	-		Prostate(69;0.00682)	223			Ig-like C2-type 1.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	ENST00000161559.6	37	c.669G>A	CCDS12609.1																																																																																				0.557	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		5	189	0	0	0	1	0	5	189				
C15orf26	161502	broad.mit.edu	37	15	81427611	81427611	+	Splice_Site	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr15:81427611G>T	ENST00000286732.4	+	2	153	c.70G>T	c.(70-72)Gag>Tag	p.E24*		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	24										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTCTGTTTAGGAGCTCATGAA	0.338																																						ENST00000286732.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.e2-1		chromosome 15 open reading frame 26							65.0	68.0	67.0					15																	81427611		1793	4066	5859	SO:0001630	splice_region_variant	161502							g.chr15:81427611G>T	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.70-1G>T	15.37:g.81427611G>T							p.E24_splice	NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN			2	153	+			24					Q8N906	Splice_Site	SNP	ENST00000286732.4	37	c.69_splice	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378427	0.82682	.	.	ENSG00000156206	ENST00000286732	.	.	.	4.94	4.94	0.65067	.	0.115341	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.5488	16.9642	0.86281	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	.	E	+	1	0	C15orf26	79214666	1.000000	0.71417	0.997000	0.53966	0.421000	0.31385	5.393000	0.66279	2.257000	0.74773	0.591000	0.81541	GAG		0.338	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	Nonsense_Mutation	5	53	1	0	0.000602214	1	0.00064914	5	53				
CSTF2T	23283	broad.mit.edu	37	10	53458034	53458034	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr10:53458034C>T	ENST00000331173.4	-	1	1321	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	426	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TCTAAGACCTCAGTTTCCATG	0.527																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1276-1278)Gag>Aag		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant							196.0	178.0	184.0					10																	53458034		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458034C>T	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1276G>A	10.37:g.53458034C>T	ENSP00000332444:p.Glu426Lys					PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	p.E426K	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1321	-			426			9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.1276G>A	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749004	0.30955	.	.	ENSG00000177613	ENST00000331173	T	0.20332	2.08	5.22	3.33	0.38152	.	0.817969	0.11031	N	0.607176	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	B	0.24533	0.105	B	0.24006	0.05	T	0.27739	-1.0065	10	0.24483	T	0.36	-2.3009	8.8354	0.35109	0.0:0.7594:0.1554:0.0852	.	426	Q9H0L4	CSTFT_HUMAN	K	426	ENSP00000332444:E426K	ENSP00000332444:E426K	E	-	1	0	CSTF2T	53128040	0.009000	0.17119	0.106000	0.21319	0.938000	0.57974	0.873000	0.28052	1.537000	0.49254	0.655000	0.94253	GAG		0.527	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		8	90	0	0	0	1	0	8	90				
ADIPOR1	51094	broad.mit.edu	37	1	202914151	202914151	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:202914151C>T	ENST00000340990.5	-	5	875	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V193I	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	193					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGACAATAGACGGTGTGAAAG	0.443																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(577-579)Gtc>Atc		adiponectin receptor 1							123.0	130.0	128.0					1																	202914151		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202914151C>T		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.577G>A	1.37:g.202914151C>T	ENSP00000341785:p.Val193Ile					ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V193I	p.V193I	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		5	875	-			193					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.577G>A	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192222	0.78902	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000426229	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	N	0.25094	0.71	0.80722	D	1	B	0.24368	0.102	B	0.29524	0.103	T	0.04976	-1.0914	10	0.20519	T	0.43	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	193	Q96A54	ADR1_HUMAN	I	193	ENSP00000341785:V193I;ENSP00000395469:V193I;ENSP00000402178:V193I;ENSP00000392946:V193I	ENSP00000341785:V193I	V	-	1	0	ADIPOR1	201180774	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.805000	0.86005	2.941000	0.99782	0.655000	0.94253	GTC		0.443	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		4	155	0	0	0	1	0	4	155				
SLC45A2	51151	broad.mit.edu	37	5	33947262	33947262	+	Intron	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr5:33947262G>A	ENST00000296589.4	-	6	1515				SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000382102.3_Silent_p.C458C	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2						developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCAATGACAGCACACCTCCT	0.498																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1372-1374)tgC>tgT		solute carrier family 45, member 2							212.0	202.0	205.0					5																	33947262		2203	4300	6503	SO:0001627	intron_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947262G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1368+5C>T	5.37:g.33947262G>A						SLC45A2_ENST00000296589.4_Intron|SLC45A2_ENST00000342059.3_Intron	p.C458C	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			6	1431	-			0					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.1374C>T	CCDS3901.1																																																																																				0.498	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		4	262	0	0	0	1	0	4	262				
CKMT2	1160	broad.mit.edu	37	5	80548571	80548571	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr5:80548571C>T	ENST00000424301.2	+	4	448	c.210C>T	c.(208-210)ccC>ccT	p.P70P	CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Silent_p.P70P|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Silent_p.P70P	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	70	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GCCTCACCCCCGCCATTTATG	0.617																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(208-210)ccC>ccT		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						111.0	94.0	100.0					5																	80548571		2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80548571C>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.210C>T	5.37:g.80548571C>T						CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Silent_p.P70P|CKMT2_ENST00000254035.4_Silent_p.P70P|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA	p.P70P	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	4	448	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	70			Phosphagen kinase N-terminal.		Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.210C>T	CCDS4053.1																																																																																				0.617	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		13	82	0	0	0	1	0	13	82				
GPR119	139760	broad.mit.edu	37	X	129519055	129519055	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chrX:129519055C>T	ENST00000276218.2	-	1	456	c.367G>A	c.(367-369)Ggg>Agg	p.G123R		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	123					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						ATGCAGGCCCCGGCCACGAAC	0.567																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(367-369)Ggg>Agg		G protein-coupled receptor 119							94.0	90.0	92.0					X																	129519055		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519055C>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.367G>A	X.37:g.129519055C>T	ENSP00000276218:p.Gly123Arg						p.G123R	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	456	-			123					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.367G>A	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	C	5.393	0.257718	0.10239	.	.	ENSG00000147262	ENST00000276218	T	0.36157	1.27	4.96	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.219309	0.38720	N	0.001596	T	0.22126	0.0533	L	0.27053	0.805	0.09310	N	0.999995	B	0.15141	0.012	B	0.14578	0.011	T	0.15292	-1.0442	10	0.23891	T	0.37	-3.1175	6.9094	0.24327	0.1719:0.7354:0.0:0.0928	.	123	Q8TDV5	GP119_HUMAN	R	123	ENSP00000276218:G123R	ENSP00000276218:G123R	G	-	1	0	GPR119	129346736	0.178000	0.23122	0.602000	0.28890	0.787000	0.44495	2.014000	0.40951	1.082000	0.41137	-0.305000	0.09177	GGG		0.567	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		4	86	0	0	0	1	0	4	86				
ANKRD17	26057	broad.mit.edu	37	4	74010532	74010532	+	Silent	SNP	A	A	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr4:74010532A>C	ENST00000358602.4	-	11	2003	c.1887T>G	c.(1885-1887)ggT>ggG	p.G629G	ANKRD17_ENST00000509867.2_Silent_p.G516G|ANKRD17_ENST00000330838.6_Silent_p.G629G|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	629					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGTTCTTCCACCTTCAGATT	0.303																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(1885-1887)ggT>ggG		ankyrin repeat domain 17							76.0	74.0	75.0					4																	74010532		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74010532A>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1887T>G	4.37:g.74010532A>C						ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.G516G|ANKRD17_ENST00000330838.6_Silent_p.G629G	p.G629G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	2003	-	Breast(15;0.000295)		629					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.1887T>G	CCDS34004.1																																																																																				0.303	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		5	34	0	0	0	1	0	5	34				
MFI2	4241	broad.mit.edu	37	3	196735710	196735710	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr3:196735710T>G	ENST00000296350.5	-	12	1765	c.1652A>C	c.(1651-1653)gAg>gCg	p.E551A		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	551	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTAATACCGCTCCTGGCTGTT	0.672																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1651-1653)gAg>gCg		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							90.0	80.0	83.0					3																	196735710		2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196735710T>G		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1652A>C	3.37:g.196735710T>G	ENSP00000296350:p.Glu551Ala						p.E551A	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	12	1765	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		551			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.1652A>C	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069149	0.76301	.	.	ENSG00000163975	ENST00000296350	T	0.38240	1.15	4.96	4.96	0.65561	.	0.051772	0.85682	D	0.000000	T	0.65059	0.2655	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.72924	-0.4144	10	0.87932	D	0	-42.6798	13.4985	0.61440	0.0:0.0:0.0:1.0	.	551	P08582	TRFM_HUMAN	A	551	ENSP00000296350:E551A	ENSP00000296350:E551A	E	-	2	0	MFI2	198220107	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.797000	0.85911	1.852000	0.53769	0.455000	0.32223	GAG		0.672	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			6	77	0	0	0	1	0	6	77				
OR10H4	126541	broad.mit.edu	37	19	16060516	16060516	+	Silent	SNP	C	C	T	rs370722157		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:16060516C>T	ENST00000322107.1	+	1	699	c.699C>T	c.(697-699)gcC>gcT	p.A233A		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TTCCCTCTGCCGAAGGCCGGC	0.512																																						ENST00000322107.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(697-699)gcC>gcT		olfactory receptor, family 10, subfamily H, member 4		C		0,4406		0,0,2203	196.0	179.0	185.0		699	-1.6	0.1	19		185	2,8598		0,2,4298	no	coding-synonymous	OR10H4	NM_001004465.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		233/317	16060516	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060516C>T	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.699C>T	19.37:g.16060516C>T							p.A233A	NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN			1	699	+			233					Q6IFJ2|Q96R57	Silent	SNP	ENST00000322107.1	37	c.699C>T	CCDS32941.1																																																																																				0.512	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			5	171	0	0	0	1	0	5	171				
DNPEP	23549	broad.mit.edu	37	2	220251660	220251660	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr2:220251660C>T	ENST00000373972.1	-	0	194				DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N|DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|AC053503.4_ENST00000420563.1_RNA			Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase						peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGAGTTCACTGAAGCCAGC	0.587																																						ENST00000373972.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17								aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						90.0	91.0	90.0					2																	220251660		1941	4134	6075			23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220251660C>T		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000373972.1:c.-53G>A	2.37:g.220251660C>T						DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N|DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N				Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	0	194	-		Renal(207;0.0474)						Q9BW44|Q9NUV5	Translation_Start_Site	SNP	ENST00000373972.1	37			.	.	.	.	.	.	.	.	.	.	C	10.82	1.458692	0.26248	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000523282;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000519905	.	.	.	5.07	1.49	0.22878	.	0.987279	0.08278	N	0.970320	T	0.31327	0.0793	L	0.42581	1.335	0.21822	N	0.999529	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.002;0.001;0.004;0.001	T	0.27502	-1.0072	9	0.29301	T	0.29	-9.0408	3.9196	0.09237	0.1477:0.239:0.0:0.6133	.	66;58;66;48;58	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	N	58;58;66;66;44;58;58;44	.	ENSP00000273075:S58N	S	-	2	0	DNPEP	219959904	0.318000	0.24598	0.993000	0.49108	0.593000	0.36681	-0.213000	0.09305	0.020000	0.15106	-0.367000	0.07326	AGT		0.587	DNPEP-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000130216.2	NM_012100		16	79	0	0	0	1	0	16	79				
MRPS23	51649	broad.mit.edu	37	17	55917219	55917219	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr17:55917219C>A	ENST00000313608.8	-	5	543	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	166					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTTTCTGAGTCTCGTTTTCTT	0.488																																						ENST00000313608.8																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(496-498)gaG>gaT		mitochondrial ribosomal protein S23							186.0	151.0	163.0					17																	55917219		2203	4300	6503	SO:0001583	missense	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55917219C>A	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.498G>T	17.37:g.55917219C>A	ENSP00000320184:p.Glu166Asp						p.E166D	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN			5	543	-	Breast(9;8.75e-08)		166					B2R6V3|Q96Q24|Q9BWH8|Q9P053	Missense_Mutation	SNP	ENST00000313608.8	37	c.498G>T	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074052	0.36566	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.87	3.85	0.44370	.	0.227419	0.46442	N	0.000283	T	0.16981	0.0408	N	0.08118	0	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.16541	-1.0399	9	0.20519	T	0.43	.	8.8624	0.35265	0.0:0.7696:0.1486:0.0819	.	166	Q9Y3D9	RT23_HUMAN	D	166	.	ENSP00000320184:E166D	E	-	3	2	MRPS23	53272218	0.004000	0.15560	0.034000	0.17996	0.016000	0.09150	0.877000	0.28106	1.463000	0.47967	0.655000	0.94253	GAG		0.488	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		5	74	1	0	0.000602214	1	0.00064914	5	74				
TCF3	6929	broad.mit.edu	37	19	1615477	1615477	+	Silent	SNP	C	C	T	rs1052738		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:1615477C>T	ENST00000262965.5	-	18	1973	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	TCF3_ENST00000453954.2_Intron|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CCCGCTCGGCCTTCTGCTCTG	0.687			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1627-1629)aaG>aaA		transcription factor 3							37.0	42.0	40.0					19																	1615477		2200	4298	6498	SO:0001819	synonymous_variant	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1615477C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1629G>A	19.37:g.1615477C>T						TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000453954.2_Intron	p.K543K	NM_003200.3	NP_003191.1	P15923	TFE2_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)	18	1973	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	543					Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	c.1629G>A	CCDS12074.1																																																																																				0.687	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		28	73	0	0	0	1	0	28	73				
ZNF536	9745	broad.mit.edu	37	19	30936378	30936378	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:30936378G>A	ENST00000355537.3	+	2	2056	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	637					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G637S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGACTGCGGCCGGGTGTT	0.622																																						ENST00000355537.3																			1	Substitution - Missense(1)	p.G637S(1)	large_intestine(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1909-1911)Ggc>Agc		zinc finger protein 536							82.0	94.0	90.0					19																	30936378		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936378G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1909G>A	19.37:g.30936378G>A	ENSP00000347730:p.Gly637Ser						p.G637S	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	2056	+	Esophageal squamous(110;0.0834)		637					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1909G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754706	0.69648	.	.	ENSG00000198597	ENST00000355537	T	0.58358	0.34	5.68	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.049558	0.85682	D	0.000000	T	0.67822	0.2934	L	0.59436	1.845	0.54753	D	0.999984	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.71935	-0.4442	10	0.72032	D	0.01	-33.1419	16.434	0.83869	0.0:0.1316:0.8684:0.0	.	637;637	A7E228;O15090	.;ZN536_HUMAN	S	637	ENSP00000347730:G637S	ENSP00000347730:G637S	G	+	1	0	ZNF536	35628218	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.435000	0.97529	1.324000	0.45282	0.655000	0.94253	GGC		0.622	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		4	173	0	0	0	1	0	4	173				
ZDHHC17	23390	broad.mit.edu	37	12	77222174	77222174	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr12:77222174T>C	ENST00000426126.2	+	10	1694	c.1045T>C	c.(1045-1047)Ttt>Ctt	p.F349L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	349					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTACAGATCCTTTTTCGATCA	0.308																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1045-1047)Ttt>Ctt		zinc finger, DHHC-type containing 17							228.0	215.0	219.0					12																	77222174		1812	4067	5879	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77222174T>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1045T>C	12.37:g.77222174T>C	ENSP00000403397:p.Phe349Leu					ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	p.F349L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			10	1694	+			349					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1045T>C	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440855	0.25900	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.29397	1.57;1.57	5.72	5.72	0.89469	.	0.143078	0.64402	D	0.000004	T	0.15478	0.0373	N	0.05487	-0.04	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.09185	-1.0686	10	0.02654	T	1	-15.0086	16.0023	0.80306	0.0:0.0:0.0:1.0	.	349	Q8IUH5	ZDH17_HUMAN	L	349	ENSP00000403397:F349L;ENSP00000334868:F349L	ENSP00000334868:F349L	F	+	1	0	ZDHHC17	75746305	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.255000	0.72466	2.177000	0.69029	0.533000	0.62120	TTT		0.308	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		3	197	0	0	0	1	0	3	197				
EFR3A	23167	broad.mit.edu	37	8	132966122	132966122	+	Silent	SNP	T	T	C	rs369077283		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr8:132966122T>C	ENST00000254624.5	+	6	771	c.546T>C	c.(544-546)gaT>gaC	p.D182D	EFR3A_ENST00000519656.1_Silent_p.D146D|EFR3A_ENST00000334503.4_Silent_p.D182D	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	182						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CAGTCAACGATGAACTTCGGG	0.363																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(544-546)gaT>gaC		EFR3 homolog A (S. cerevisiae)		T		1,4403		0,1,2201	65.0	54.0	58.0		546	0.7	1.0	8		58	0,8594		0,0,4297	no	coding-synonymous	EFR3A	NM_015137.4		0,1,6498	CC,CT,TT		0.0,0.0227,0.0077		182/822	132966122	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	23167					plasma membrane	binding	g.chr8:132966122T>C	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.546T>C	8.37:g.132966122T>C						EFR3A_ENST00000334503.4_Silent_p.D182D|EFR3A_ENST00000519656.1_Silent_p.D146D	p.D182D	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		6	771	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		182					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	c.546T>C	CCDS34942.2																																																																																				0.363	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		2	7	0	0	0	1	0	2	7				
RAD54L	8438	broad.mit.edu	37	1	46736426	46736426	+	Missense_Mutation	SNP	C	C	T	rs150138364		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:46736426C>T	ENST00000371975.4	+	10	1812	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	RAD54L_ENST00000442598.1_Missense_Mutation_p.R380W|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	380			R -> Q (in dbSNP:rs28363234). {ECO:0000269|Ref.2}.		chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGGAGAGGAGCGGCTGCGGGA	0.498								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1138-1140)Cgg>Tgg	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	88.0	82.0	84.0		1138,1138	5.7	1.0	1	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RAD54L	NM_001142548.1,NM_003579.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	380/748,380/748	46736426	1,13005	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46736426C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1138C>T	1.37:g.46736426C>T	ENSP00000361043:p.Arg380Trp					RAD54L_ENST00000442598.1_Missense_Mutation_p.R380W	p.R380W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	10	1812	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	380		R -> Q (in dbSNP:rs28363234).			Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1138C>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771516	0.69992	0.0	1.16E-4	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.93763	-3.28;-3.28	5.71	5.71	0.89125	SNF2-related (1);	0.053328	0.64402	D	0.000001	D	0.97492	0.9179	H	0.95187	3.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.958	D	0.98005	1.0362	10	0.72032	D	0.01	-9.7981	12.8804	0.58014	0.2703:0.7297:0.0:0.0	.	200;380	G3V1N0;Q92698	.;RAD54_HUMAN	W	380;380;200	ENSP00000396113:R380W;ENSP00000361043:R380W	ENSP00000361043:R380W	R	+	1	2	RAD54L	46509013	1.000000	0.71417	0.995000	0.50966	0.472000	0.32918	3.212000	0.51145	2.691000	0.91804	0.563000	0.77884	CGG		0.498	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		4	62	0	0	0	1	0	4	62				
RP1	6101	broad.mit.edu	37	8	55540415	55540415	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr8:55540415G>A	ENST00000220676.1	+	4	4121	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1325					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGAGGGAGCTTGCCC	0.393																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(3973-3975)Gga>Aga		retinitis pigmentosa 1 (autosomal dominant)							138.0	135.0	136.0					8																	55540415		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540415G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3973G>A	8.37:g.55540415G>A	ENSP00000220676:p.Gly1325Arg						p.G1325R	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4121	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1325						Missense_Mutation	SNP	ENST00000220676.1	37	c.3973G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	0.710	-0.787448	0.02907	.	.	ENSG00000104237	ENST00000220676	T	0.20332	2.08	5.89	1.05	0.20165	.	1.942090	0.02329	N	0.073714	T	0.11239	0.0274	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20974	-1.0259	10	0.25751	T	0.34	.	4.642	0.12555	0.3276:0.0:0.5139:0.1585	.	1325	P56715	RP1_HUMAN	R	1325	ENSP00000220676:G1325R	ENSP00000220676:G1325R	G	+	1	0	RP1	55702968	0.000000	0.05858	0.002000	0.10522	0.134000	0.20937	-0.169000	0.09911	0.248000	0.21435	0.655000	0.94253	GGA		0.393	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		26	108	0	0	0	1	0	26	108				
SCN10A	6336	broad.mit.edu	37	3	38743403	38743403	+	Silent	SNP	G	G	A	rs141828577		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr3:38743403G>A	ENST00000449082.2	-	26	4583	c.4584C>T	c.(4582-4584)ttC>ttT	p.F1528F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1528					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCTCAAAGCGAACATCTTCA	0.468																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4582-4584)ttC>ttT		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	G		1,4405	2.1+/-5.4	0,1,2202	141.0	117.0	125.0		4584	-3.7	0.9	3	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCN10A	NM_006514.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		1528/1957	38743403	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38743403G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4584C>T	3.37:g.38743403G>A							p.F1528F	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	26	4583	-			1528					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4584C>T	CCDS33736.1																																																																																				0.468	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		14	75	0	0	0	1	0	14	75				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	50	0	0	0	1	0	4	50				
SEC24C	9632	broad.mit.edu	37	10	75530065	75530065	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr10:75530065G>A	ENST00000339365.2	+	22	3052	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000540668.1_Missense_Mutation_p.E212K|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.E212K|SEC24C_ENST00000411652.2_Missense_Mutation_p.E845K|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000345254.4_Missense_Mutation_p.E964K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	964					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GAGTACTACCGAACCACCAGC	0.507																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2890-2892)Gaa>Aaa		SEC24 family member C							184.0	189.0	188.0					10																	75530065		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75530065G>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2890G>A	10.37:g.75530065G>A	ENSP00000343405:p.Glu964Lys					SEC24C_ENST00000411652.2_Missense_Mutation_p.E845K|SEC24C_ENST00000345254.4_Missense_Mutation_p.E964K|SEC24C_ENST00000540668.1_Missense_Mutation_p.E212K|SEC24C_ENST00000535742.1_Missense_Mutation_p.E212K|SEC24C_ENST00000496827.1_3'UTR	p.E964K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			22	3052	+	Prostate(51;0.0112)		964					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2890G>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	8.293	0.818235	0.16607	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.91	5.91	0.95273	Gelsolin domain (1);	0.113535	0.64402	D	0.000016	T	0.27832	0.0685	L	0.54323	1.7	0.30635	N	0.757121	B;P	0.39847	0.357;0.691	B;B	0.32583	0.021;0.148	T	0.41342	-0.9514	10	0.52906	T	0.07	-11.8294	13.0263	0.58817	0.0:0.0:0.7993:0.2007	.	845;964	E7EP00;P53992	.;SC24C_HUMAN	K	212;964;212;964;845	ENSP00000446174:E212K;ENSP00000321845:E964K;ENSP00000445023:E212K;ENSP00000343405:E964K;ENSP00000402913:E845K	ENSP00000343405:E964K	E	+	1	0	SEC24C	75200071	0.999000	0.42202	0.995000	0.50966	0.425000	0.31504	3.275000	0.51639	2.791000	0.96007	0.655000	0.94253	GAA		0.507	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			4	288	0	0	0	1	0	4	288				
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:21606712T>C	ENST00000355504.4	+	2	1133	c.867T>C	c.(865-867)tcT>tcC	p.S289S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S417S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1249-1251)tcT>tcC		zinc finger protein 493							34.0	37.0	36.0					19																	21606712		2198	4293	6491	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606712T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.867T>C	19.37:g.21606712T>C						ZNF493_ENST00000355504.4_Silent_p.S289S|CTD-2561J22.3_ENST00000600810.1_Intron	p.S417S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1360	+			289					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1251T>C	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		4	56	0	0	0	1	0	4	56				
MTHFR	4524	broad.mit.edu	37	1	11860307	11860307	+	Missense_Mutation	SNP	C	C	T	rs574132670		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:11860307C>T	ENST00000376592.1	-	3	676	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	183					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	AAACTCACTTCGGATGTGCTT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		20887	0.0		0.0	False		,,,				2504	0.001					ENST00000376592.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(547-549)cGa>cAa		methylenetetrahydrofolate reductase (NAD(P)H)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						366.0	277.0	307.0					1																	11860307		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11860307C>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.548G>A	1.37:g.11860307C>T	ENSP00000365777:p.Arg183Gln					MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q	p.R183Q			P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	3	676	-	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	183					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.548G>A	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	37	6.102810	0.97286	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.96944	0.9002	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.945;0.991	D	0.97196	0.9861	10	0.87932	D	0	.	18.5335	0.91001	0.0:1.0:0.0:0.0	.	183;224	P42898;Q5SNW6	MTHR_HUMAN;.	Q	183;224;183;224	ENSP00000365777:R183Q;ENSP00000365767:R224Q;ENSP00000365775:R183Q;ENSP00000365770:R224Q	ENSP00000365767:R224Q	R	-	2	0	MTHFR	11782894	1.000000	0.71417	0.967000	0.41034	0.985000	0.73830	7.183000	0.77697	2.735000	0.93741	0.549000	0.68633	CGA		0.567	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		5	266	0	0	0	1	0	5	266				
CCDC180	100499483	broad.mit.edu	37	9	100132347	100132347	+	Missense_Mutation	SNP	C	C	T	rs141047389		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr9:100132347C>T	ENST00000357054.1	+	44	5235	c.4300C>T	c.(4300-4302)Cgg>Tgg	p.R1434W	CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W|CCDC180_ENST00000375202.2_Missense_Mutation_p.R1489W			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1434						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ACAGCAGAAGCGGCTGGAGAA	0.542																																						ENST00000375202.2																			0											c.(4465-4467)Cgg>Tgg		coiled-coil domain containing 180		C	TRP/ARG	0,4406		0,0,2203	38.0	43.0	41.0		4465	1.1	0.0	9	dbSNP_134	41	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C9orf174	NM_020893.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1489/1702	100132347	2,13004	2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100132347C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4300C>T	9.37:g.100132347C>T	ENSP00000349562:p.Arg1434Trp					CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.R1434W|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W	p.R1489W							46	5817	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4465C>T		.	.	.	.	.	.	.	.	.	.	C	5.904	0.350950	0.11182	0.0	2.33E-4	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.47177	0.85;0.85;0.85	5.31	1.13	0.20643	.	0.874621	0.10119	N	0.713615	T	0.29389	0.0732	N	0.19112	0.55	0.09310	N	1	B;B	0.30104	0.029;0.268	B;B	0.16289	0.005;0.015	T	0.13229	-1.0517	10	0.66056	D	0.02	-4.2502	8.6457	0.34005	0.4625:0.3996:0.1378:0.0	.	1628;1434	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	W	1434;1489;1489	ENSP00000349562:R1434W;ENSP00000364348:R1489W;ENSP00000434727:R1489W	ENSP00000349562:R1434W	R	+	1	2	C9orf174	99172168	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.649000	0.05384	0.008000	0.14787	-0.169000	0.13324	CGG		0.542	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	29	0	0	0	1	0	4	29				
ESCO1	114799	broad.mit.edu	37	18	19153550	19153550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr18:19153550G>A	ENST00000269214.5	-	4	2192	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	419					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AAACTGGTTCGTAATAAGCCT	0.373																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1255-1257)Cga>Tga		establishment of sister chromatid cohesion N-acetyltransferase 1							100.0	102.0	101.0					18																	19153550		2203	4300	6503	SO:0001587	stop_gained	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153550G>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1255C>T	18.37:g.19153550G>A	ENSP00000269214:p.Arg419*						p.R419*	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	2192	-			419					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	37	c.1255C>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	45	11.317889	0.99546	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	5.8	2.68	0.31781	.	0.775370	0.11109	N	0.598830	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-18.2516	12.6554	0.56784	0.0:0.0:0.3607:0.6393	.	.	.	.	X	419	.	ENSP00000269214:R419X	R	-	1	2	ESCO1	17407548	0.987000	0.35691	0.865000	0.33974	0.982000	0.71751	1.872000	0.39549	0.761000	0.33130	0.655000	0.94253	CGA		0.373	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		5	192	0	0	0	1	0	5	192				
UROC1	131669	broad.mit.edu	37	3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T	rs200384323		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity). {ECO:0000269|PubMed:19304569}.		cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACACCCAGCGGAAAGGCCC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17660	0.0		0.001	False		,,,				2504	0.0					ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1348-1350)cGc>cAc		urocanate hydratase 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	144.0	155.0	151.0		1529,1349	3.5	1.0	3		151	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	UROC1	NM_001165974.1,NM_144639.2	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	510/737,450/677	126216983	3,13003	2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126216983C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1349G>A	3.37:g.126216983C>T	ENSP00000290868:p.Arg450His					UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	p.R450H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	14	1402	-			450		R -> C (in UROD; loss of activity).			E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1349G>A	CCDS3038.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.2	4.109398	0.77096	2.27E-4	2.33E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.65916	-0.18;-0.18	4.4	3.52	0.40303	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87253	0.2274	10	0.87932	D	0	-9.3123	10.1803	0.42963	0.0:0.9002:0.0:0.0998	.	510;450	E9PE13;Q96N76	.;HUTU_HUMAN	H	450;510	ENSP00000290868:R450H;ENSP00000373073:R510H	ENSP00000290868:R450H	R	-	2	0	UROC1	127699673	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.588000	0.67517	0.851000	0.35264	0.491000	0.48974	CGC		0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		9	250	0	0	0	1	0	9	250				
MYO15A	51168	broad.mit.edu	37	17	18023207	18023207	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr17:18023207G>A	ENST00000205890.5	+	2	1431	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	365					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CACTCCCTACGATGTACCCTA	0.617																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1093-1095)Gat>Aat		myosin XVA							101.0	109.0	107.0					17																	18023207		2018	4177	6195	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023207G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1093G>A	17.37:g.18023207G>A	ENSP00000205890:p.Asp365Asn						p.D365N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1431	+	all_neural(463;0.228)		365			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1093G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244010	0.22796	.	.	ENSG00000091536	ENST00000205890	D	0.89617	-2.54	3.16	-0.167	0.13347	.	.	.	.	.	T	0.72260	0.3438	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.57323	-0.7831	9	0.06236	T	0.91	.	4.3695	0.11241	0.2377:0.4205:0.3418:0.0	.	365	Q9UKN7	MYO15_HUMAN	N	365	ENSP00000205890:D365N	ENSP00000205890:D365N	D	+	1	0	MYO15A	17963932	0.905000	0.30787	0.003000	0.11579	0.124000	0.20399	-0.438000	0.06905	0.032000	0.15435	0.561000	0.74099	GAT		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		6	175	0	0	0	1	0	6	175				
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102.0	108.0	106.0					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		6	183	0	0	0	1	0	6	183				
LRP2	4036	broad.mit.edu	37	2	170136033	170136033	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr2:170136033G>A	ENST00000263816.3	-	12	1699	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	LRP2_ENST00000443831.1_Silent_p.L472L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	472					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCCACAGCCAGGTTCTCTGGG	0.353																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1414-1416)Ctg>Ttg		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						81.0	88.0	85.0					2																	170136033		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170136033G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1414C>T	2.37:g.170136033G>A						LRP2_ENST00000443831.1_Silent_p.L472L	p.L472L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	12	1699	-			472					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.1414C>T	CCDS2232.1																																																																																				0.353	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		19	77	0	0	0	1	0	19	77				
ACAN	176	broad.mit.edu	37	15	89398620	89398620	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr15:89398620G>A	ENST00000561243.1	+	11	2804	c.2804G>A	c.(2803-2805)gGt>gAt	p.G935D	ACAN_ENST00000559004.1_Missense_Mutation_p.G935D|ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000439576.2_Missense_Mutation_p.G935D			P16112	PGCA_HUMAN	aggrecan	934	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTACGGTTGGTGAACTGCCC	0.557																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2803-2805)gGt>gAt		aggrecan							53.0	58.0	56.0					15																	89398620		1912	4128	6040	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398620G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2804G>A	15.37:g.89398620G>A	ENSP00000453342:p.Gly935Asp					ACAN_ENST00000561243.1_Missense_Mutation_p.G935D|ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000559004.1_Missense_Mutation_p.G935D	p.G935D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3178	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		935					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2804G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	2.090	-0.408729	0.04799	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.94828	-3.53;-3.53	4.49	0.384	0.16244	.	.	.	.	.	D	0.85141	0.5629	N	0.14661	0.345	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.25614	0.042;0.062	T	0.72023	-0.4415	9	0.16420	T	0.52	-1.3272	3.5856	0.07970	0.4144:0.0:0.4014:0.1841	.	935;935	E7ENV9;E7EX88	.;.	D	935	ENSP00000387356:G935D;ENSP00000341615:G935D	ENSP00000268134:G935D	G	+	2	0	ACAN	87199624	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.077000	0.14738	-0.022000	0.13986	0.563000	0.77884	GGT		0.557	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	34	0	0	0	1	0	4	34				
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G	rs200594600		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:40580552T>G	ENST00000595687.2	-	6	2006	c.1797A>C	c.(1795-1797)caA>caC	p.Q599H	ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q565H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1693-1695)caA>caC		zinc finger protein 780A							144.0	142.0	143.0					19																	40580552		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580552T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1797A>C	19.37:g.40580552T>G	ENSP00000472189:p.Gln599His					ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H	p.Q565H			O75290	Z780A_HUMAN			6	2006	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		599					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1695A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	9.527	1.109847	0.20714	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.27402	1.67;1.67	1.93	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	N	0.02674	-0.535	0.09310	N	1	B;D	0.69078	0.387;0.997	B;D	0.65684	0.312;0.937	T	0.17715	-1.0360	9	0.08599	T	0.76	.	6.7369	0.23415	0.0:0.0:0.4738:0.5262	.	600;599	E9PB48;O75290	.;Z780A_HUMAN	H	599;600;599	ENSP00000400997:Q600H;ENSP00000341507:Q599H	ENSP00000341507:Q599H	Q	-	3	2	ZNF780A	45272392	0.000000	0.05858	0.004000	0.12327	0.653000	0.38743	-2.502000	0.00965	-0.004000	0.14419	0.260000	0.18958	CAA		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	161	0	0	0	1	0	6	161				
SLCO2B1	11309	broad.mit.edu	37	11	74904264	74904264	+	Splice_Site	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr11:74904264C>A	ENST00000289575.5	+	9	1472	c.1077C>A	c.(1075-1077)gtC>gtA	p.V359V	SLCO2B1_ENST00000454962.2_Splice_Site_p.V132V|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132V|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104V|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215V|SLCO2B1_ENST00000428359.2_Splice_Site_p.V337V|SLCO2B1_ENST00000532236.1_Splice_Site_p.V243V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	359					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCCCACAGTCTTCCCCAGGG	0.617																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.e9-1		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						68.0	67.0	68.0					11																	74904264		2200	4293	6493	SO:0001630	splice_region_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904264C>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1076-1C>A	11.37:g.74904264C>A						SLCO2B1_ENST00000525650.1_Splice_Site_p.V215_splice|SLCO2B1_ENST00000454962.2_Splice_Site_p.V132_splice|SLCO2B1_ENST00000532236.1_Splice_Site_p.V243_splice|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104_splice|SLCO2B1_ENST00000428359.2_Splice_Site_p.V337_splice|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132_splice	p.V359_splice	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			9	1472	+			359					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Splice_Site	SNP	ENST00000289575.5	37	c.1075_splice	CCDS8235.1																																																																																				0.617	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	Silent	5	120	1	0	0.000157383	1	0.000174171	5	120				
CYP4F8	11283	broad.mit.edu	37	19	15739644	15739644	+	RNA	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:15739644C>T	ENST00000441682.2	+	0	1449							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTTCTCGGCGGGGCCCAGG	0.587																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							44.0	48.0	47.0					19																	15739644		2006	4196	6202			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739644C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739644C>T										P98187	CP4F8_HUMAN			0	1449	+									RNA	SNP	ENST00000441682.2	37			.	.	.	.	.	.	.	.	.	.	.	16.55	3.154859	0.57259	.	.	ENSG00000186526	ENST00000441682;ENST00000325723	.	.	.	3.32	2.27	0.28462	Cytochrome P450, conserved site (1);	0.079472	0.48767	U	0.000170	T	0.50922	0.1644	.	.	.	0.39606	D	0.969805	P;D	0.55800	0.752;0.973	P;P	0.51297	0.595;0.665	T	0.64158	-0.6473	7	0.72032	D	0.01	.	8.1849	0.31333	0.0:0.8756:0.0:0.1244	.	275;463	B4DU85;P98187	.;CP4F8_HUMAN	V	462;275	.	ENSP00000314398:A275V	A	+	2	0	CYP4F8	15600644	0.988000	0.35896	0.007000	0.13788	0.568000	0.35870	3.778000	0.55371	0.592000	0.29728	0.436000	0.28706	GCG		0.587	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		6	70	0	0	0	1	0	6	70				
CDKL2	8999	broad.mit.edu	37	4	76507096	76507096	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr4:76507096G>A	ENST00000429927.2	-	11	2132	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	CDKL2_ENST00000307465.4_Missense_Mutation_p.P554S	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	477					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCTGACAGGGGAGGTCCTGAT	0.383																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(1429-1431)Ccc>Tcc		cyclin-dependent kinase-like 2 (CDC2-related kinase)							72.0	71.0	72.0					4																	76507096		2203	4299	6502	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76507096G>A	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1429C>T	4.37:g.76507096G>A	ENSP00000412365:p.Pro477Ser					CDKL2_ENST00000307465.4_Missense_Mutation_p.P554S	p.P477S	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		11	2132	-			477					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1429C>T	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	G	3.248	-0.153900	0.06585	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.72942	-0.7;-0.44	4.79	1.11	0.20524	.	.	.	.	.	T	0.43122	0.1233	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.24941	-1.0146	9	0.09084	T	0.74	-13.8566	6.732	0.23388	0.3886:0.0:0.6114:0.0	.	554;477	B4DH08;Q92772	.;CDKL2_HUMAN	S	477;554	ENSP00000412365:P477S;ENSP00000306340:P554S	ENSP00000306340:P554S	P	-	1	0	CDKL2	76726120	0.100000	0.21855	0.161000	0.22692	0.059000	0.15707	0.335000	0.19806	0.326000	0.23384	0.561000	0.74099	CCC		0.383	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		7	40	0	0	0	1	0	7	40				
CACHD1	57685	broad.mit.edu	37	1	65142590	65142590	+	Silent	SNP	C	C	T	rs150699745		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:65142590C>T	ENST00000371073.2	+	22	2988	c.2988C>T	c.(2986-2988)tgC>tgT	p.C996C	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.C945C			Q5VU97	CAHD1_HUMAN	cache domain containing 1	996					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCCCAGCTGCGAGGTCCACC	0.547																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2986-2988)tgC>tgT		cache domain containing 1		C		0,4406		0,0,2203	124.0	121.0	122.0		2835	-6.5	0.9	1	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACHD1	NM_020925.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		945/1224	65142590	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57685				calcium ion transport	integral to membrane		g.chr1:65142590C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2988C>T	1.37:g.65142590C>T						CACHD1_ENST00000290039.5_Silent_p.C945C|CACHD1_ENST00000495994.1_3'UTR	p.C996C			Q5VU97	CAHD1_HUMAN			22	2988	+			996					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37	c.2988C>T																																																																																					0.547	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		27	198	0	0	0	1	0	27	198				
EVL	51466	broad.mit.edu	37	14	100613237	100613237	+	IGR	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr14:100613237T>G	ENST00000402714.2	+	0	2353				DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D|DEGS2_ENST00000557117.1_5'Flank|DEGS2_ENST00000305631.5_Missense_Mutation_p.K278T			Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGGCGCGATCTTCCGCACCTG	0.657																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(832-834)aAg>aCg		delta(4)-desaturase, sphingolipid 2							76.0	77.0	77.0					14																	100613237		2203	4300	6503	SO:0001628	intergenic_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100613237T>G	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530		14.37:g.100613237T>G						DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D	p.K278T	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			3	1408	-		Melanoma(154;0.212)	278					A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.833A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.044297|4.044297	0.75732|0.75732	.|.	.|.	ENSG00000168350|ENSG00000168350	ENST00000553834|ENST00000305631	T|T	0.47869|0.18016	0.83|2.24	4.86|4.86	3.68|3.68	0.42216|0.42216	.|Fatty acid desaturase, type 1 (1);	.|0.316615	.|0.36303	.|N	.|0.002674	T|T	0.24160|0.24160	0.0585|0.0585	M|M	0.85710|0.85710	2.77|2.77	0.09310|0.09310	N|N	0.999999|0.999999	.|P	.|0.36354	.|0.549	.|B	.|0.34038	.|0.174	T|T	0.17868|0.17868	-1.0355|-1.0355	6|10	.|0.72032	.|D	.|0.01	-14.7995|-14.7995	11.0019|11.0019	0.47611|0.47611	0.1395:0.0:0.0:0.8605|0.1395:0.0:0.0:0.8605	.|.	.|278	.|Q6QHC5	.|DEGS2_HUMAN	D|T	30|278	ENSP00000450637:E30D|ENSP00000307126:K278T	.|ENSP00000307126:K278T	E|K	-|-	3|2	2|0	DEGS2|DEGS2	99682990|99682990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	3.236000|3.236000	0.51336|0.51336	0.675000|0.675000	0.31264|0.31264	0.459000|0.459000	0.35465|0.35465	GAA|AAG		0.657	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			7	87	0	0	0	1	0	7	87				
MOXD1	26002	broad.mit.edu	37	6	132645229	132645229	+	Silent	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr6:132645229T>G	ENST00000367963.3	-	7	1072	c.954A>C	c.(952-954)atA>atC	p.I318I	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I250I	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	318						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CAGAATTATCTATTAAGCCTA	0.348																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(952-954)atA>atC		monooxygenase, DBH-like 1							86.0	88.0	87.0					6																	132645229		2203	4300	6503	SO:0001819	synonymous_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132645229T>G	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.954A>C	6.37:g.132645229T>G						MOXD1_ENST00000336749.3_Silent_p.I250I|MOXD1_ENST00000489128.1_5'UTR	p.I318I	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	7	1072	-	Breast(56;0.0495)		318					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	c.954A>C	CCDS5152.2																																																																																				0.348	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		5	65	0	0	0	1	0	5	65				
MKL1	57591	broad.mit.edu	37	22	40816901	40816901	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr22:40816901C>G	ENST00000355630.3	-	10	1421	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H|MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000396617.3_Missense_Mutation_p.Q277H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	277	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCTGCTGGTTGAGGA	0.657			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(829-831)caG>caC		megakaryoblastic leukemia (translocation) 1							62.0	63.0	62.0					22																	40816901		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816901C>G	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.831G>C	22.37:g.40816901C>G	ENSP00000347847:p.Gln277His					MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000355630.3_Missense_Mutation_p.Q277H|MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H	p.Q277H			Q969V6	MKL1_HUMAN			10	1421	-			277			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.831G>C	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766193	0.69878	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.61859	0.16;0.11;0.07;0.16	5.26	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.77616	2.38	0.48696	D	0.999692	P;D;P	0.67145	0.787;0.996;0.787	B;D;B	0.75484	0.294;0.986;0.294	T	0.75385	-0.3336	10	0.66056	D	0.02	-15.2355	9.9937	0.41887	0.0:0.8449:0.0:0.1551	.	227;277;277	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	H	277;277;227;277	ENSP00000347847:Q277H;ENSP00000379861:Q277H;ENSP00000385584:Q227H;ENSP00000385835:Q277H	ENSP00000347847:Q277H	Q	-	3	2	MKL1	39146847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.270000	0.51600	1.210000	0.43336	0.462000	0.41574	CAG		0.657	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		3	62	0	0	0	1	0	3	62				
ERBB3	2065	broad.mit.edu	37	12	56481660	56481660	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr12:56481660C>T	ENST00000267101.3	+	6	1135	c.695C>T	c.(694-696)gCc>gTc	p.A232V	ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	232					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GATGAGTGTGCCGGGGGCTGC	0.547																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(694-696)gCc>gTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							142.0	137.0	138.0					12																	56481660		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481660C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.695C>T	12.37:g.56481660C>T	ENSP00000267101:p.Ala232Val					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V	p.A232V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	1135	+			232					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.695C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561038	0.96527	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.84223	-1.82;-1.82	5.69	5.69	0.88448	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000005	D	0.93733	0.7997	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.94397	0.7619	10	0.87932	D	0	.	18.5835	0.91180	0.0:1.0:0.0:0.0	.	232	P21860	ERBB3_HUMAN	V	232;232;173	ENSP00000267101:A232V;ENSP00000408340:A173V	ENSP00000267101:A232V	A	+	2	0	ERBB3	54767927	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.481000	0.81124	2.685000	0.91497	0.655000	0.94253	GCC		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			9	201	0	0	0	1	0	9	201				
LRPPRC	10128	broad.mit.edu	37	2	44121719	44121719	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr2:44121719T>C	ENST00000260665.7	-	36	4007	c.3950A>G	c.(3949-3951)aAg>aGg	p.K1317R	RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1317	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTTCTTCCTTTTCATTTAA	0.269																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(3949-3951)aAg>aGg		leucine-rich pentatricopeptide repeat containing							69.0	74.0	72.0					2																	44121719		2202	4282	6484	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44121719T>C	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3950A>G	2.37:g.44121719T>C	ENSP00000260665:p.Lys1317Arg						p.K1317R	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			36	4007	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1317			RNA-binding.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.3950A>G	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	8.258	0.810430	0.16537	.	.	ENSG00000138095	ENST00000260665;ENST00000419884	T	0.12984	2.63	5.84	2.17	0.27698	.	0.466130	0.23213	N	0.050649	T	0.07098	0.0180	L	0.31664	0.95	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.34601	-0.9822	10	0.17369	T	0.5	-7.4497	1.6592	0.02787	0.1242:0.2115:0.3539:0.3104	.	1317	P42704	LPPRC_HUMAN	R	1317;64	ENSP00000260665:K1317R	ENSP00000260665:K1317R	K	-	2	0	LRPPRC	43975223	0.000000	0.05858	0.031000	0.17742	0.004000	0.04260	0.062000	0.14389	0.448000	0.26722	0.528000	0.53228	AAG		0.269	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		3	81	0	0	0	1	0	3	81				
PRKAG1	5571	broad.mit.edu	37	12	49398943	49398943	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr12:49398943C>A	ENST00000548065.1	-	6	771	c.315G>T	c.(313-315)caG>caT	p.Q105H	RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H|RP11-386G11.5_ENST00000547395.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	105					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GCTCATAGATCTGTACCTGAA	0.423																																						ENST00000548065.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						c.(313-315)caG>caT		protein kinase, AMP-activated, gamma 1 non-catalytic subunit							134.0	133.0	133.0					12																	49398943		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49398943C>A	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.315G>T	12.37:g.49398943C>A	ENSP00000447433:p.Gln105His					RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H	p.Q105H			P54619	AAKG1_HUMAN			6	771	-			105					B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.315G>T	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556501	0.45487	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696;ENST00000548950;ENST00000551121;ENST00000552463;ENST00000548857;ENST00000548605	D;D;D;D;D;D;D;D;D;D;D;T	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;0.48	6.07	3.21	0.36854	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.89322	0.6682	M	0.83603	2.65	0.50171	D	0.99985	B;B;B	0.32876	0.348;0.388;0.098	B;B;B	0.29524	0.103;0.048;0.019	D	0.85956	0.1467	10	0.66056	D	0.02	-13.834	9.7338	0.40376	0.0:0.7651:0.0:0.2349	.	105;114;105	B4E094;Q8N7V9;P54619	.;.;AAKG1_HUMAN	H	21;54;114;105;73;80;54;21;73;73;73;21	ENSP00000378599:Q21H;ENSP00000448873:Q54H;ENSP00000323867:Q114H;ENSP00000447433:Q105H;ENSP00000448972:Q73H;ENSP00000449121:Q80H;ENSP00000447671:Q54H;ENSP00000450112:Q21H;ENSP00000449637:Q73H;ENSP00000448251:Q73H;ENSP00000448739:Q73H;ENSP00000449104:Q21H	ENSP00000323867:Q114H	Q	-	3	2	PRKAG1	47685210	0.992000	0.36948	1.000000	0.80357	0.999000	0.98932	0.343000	0.19944	0.411000	0.25702	0.655000	0.94253	CAG		0.423	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733		5	118	1	0	1	1	1	5	118				
GINS3	64785	broad.mit.edu	37	16	58437218	58437218	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr16:58437218T>C	ENST00000318129.5	+	2	611	c.403T>C	c.(403-405)Tcc>Ccc	p.S135P	GINS3_ENST00000328514.7_Intron|GINS3_ENST00000426538.2_Missense_Mutation_p.S174P	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	135					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCAGACATTTCCCAGTCTCT	0.517																																						ENST00000318129.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						c.(403-405)Tcc>Ccc		GINS complex subunit 3 (Psf3 homolog)							53.0	46.0	48.0					16																	58437218		2198	4300	6498	SO:0001583	missense	64785				DNA replication	nucleus		g.chr16:58437218T>C	BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.403T>C	16.37:g.58437218T>C	ENSP00000318196:p.Ser135Pro					GINS3_ENST00000328514.7_Intron|GINS3_ENST00000426538.2_Missense_Mutation_p.S174P	p.S135P	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN			2	611	+			135					B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	ENST00000318129.5	37	c.403T>C	CCDS10796.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269742	0.80469	.	.	ENSG00000181938	ENST00000426538;ENST00000318129	T;T	0.15372	2.43;2.43	5.86	5.86	0.93980	.	0.098090	0.64402	D	0.000002	T	0.25644	0.0624	L	0.33485	1.01	0.47276	D	0.999377	D;P	0.54601	0.967;0.948	P;P	0.58266	0.836;0.634	T	0.00961	-1.1499	10	0.59425	D	0.04	-4.0006	11.3464	0.49563	0.0:0.0:0.2484:0.7516	.	174;135	E9PB21;Q9BRX5	.;PSF3_HUMAN	P	174;135	ENSP00000401018:S174P;ENSP00000318196:S135P	ENSP00000318196:S135P	S	+	1	0	GINS3	56994719	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.475000	0.73582	2.367000	0.80283	0.528000	0.53228	TCC		0.517	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	NM_022770		11	29	0	0	0	1	0	11	29				
CNTD2	79935	broad.mit.edu	37	19	40730407	40730407	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:40730407G>A	ENST00000430325.2	-	3	549	c.501C>T	c.(499-501)tgC>tgT	p.C167C	CNTD2_ENST00000433940.1_Silent_p.C137C|CNTD2_ENST00000513948.1_Silent_p.C61C	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	167	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CGGGAAGCACGCACTCTTCCA	0.592																																						ENST00000430325.2																			0				lung(1)|prostate(1)	2						c.(499-501)tgC>tgT		cyclin N-terminal domain containing 2							178.0	196.0	190.0					19																	40730407		2203	4300	6503	SO:0001819	synonymous_variant	79935				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr19:40730407G>A	AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.501C>T	19.37:g.40730407G>A						CNTD2_ENST00000433940.1_Silent_p.C137C|CNTD2_ENST00000513948.1_Silent_p.C61C	p.C167C	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN			3	549	-			167					B4DX65	Silent	SNP	ENST00000430325.2	37	c.501C>T	CCDS12551.2																																																																																				0.592	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		9	486	0	0	0	1	0	9	486				
TOP2A	7153	broad.mit.edu	37	17	38567942	38567942	+	Silent	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr17:38567942T>C	ENST00000423485.1	-	8	1076	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	306					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCTGAAAGCCTTTTTCACTCA	0.318																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(916-918)aaA>aaG		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						117.0	108.0	111.0					17																	38567942		1845	4088	5933	SO:0001819	synonymous_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38567942T>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.918A>G	17.37:g.38567942T>C							p.K306K	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		8	1076	-		Breast(137;0.00328)	306					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	c.918A>G	CCDS45672.1																																																																																				0.318	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			3	77	0	0	0	1	0	3	77				
CD48	962	broad.mit.edu	37	1	160654785	160654785	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:160654785C>T	ENST00000368046.3	-	2	364	c.277G>A	c.(277-279)Gca>Aca	p.A93T	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.A93T	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	93	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTACAGTGCGCCACTCTGA	0.423																																						ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(277-279)Gca>Aca		CD48 molecule							167.0	164.0	165.0					1																	160654785		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654785C>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.277G>A	1.37:g.160654785C>T	ENSP00000357025:p.Ala93Thr					CD48_ENST00000368046.3_Missense_Mutation_p.A93T	p.A93T			P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	316	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		93			Ig-like C2-type 1.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.277G>A	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460558	0.26248	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.62498	0.02;0.02	3.59	-0.856	0.10697	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.110220	0.06745	N	0.778936	T	0.43010	0.1228	L	0.49350	1.555	0.09310	N	1	B;D;P	0.54047	0.402;0.964;0.912	B;P;P	0.48815	0.136;0.591;0.572	T	0.35847	-0.9772	10	0.54805	T	0.06	-3.3301	6.5366	0.22357	0.0:0.443:0.0:0.557	.	93;93;93	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	T	93	ENSP00000357025:A93T;ENSP00000357024:A93T	ENSP00000357024:A93T	A	-	1	0	CD48	158921409	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.603000	0.05674	-0.150000	0.11195	0.462000	0.41574	GCA		0.423	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		4	166	0	0	0	1	0	4	166				
TOPBP1	11073	broad.mit.edu	37	3	133358890	133358890	+	Missense_Mutation	SNP	C	C	T	rs376746791	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr3:133358890C>T	ENST00000260810.5	-	13	2277	c.2146G>A	c.(2146-2148)Gtt>Att	p.V716I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	716	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GCTATAGTAACGGCAGGTAAA	0.393								Other conserved DNA damage response genes					C|||	2	0.000399361	0.0	0.0	5008	,	,		18619	0.0		0.0	False		,,,				2504	0.002				Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(2146-2148)Gtt>Att	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1		C	ILE/VAL	0,3716		0,0,1858	76.0	74.0	75.0		2146	4.7	0.3	3		75	1,8205		0,1,4102	no	missense	TOPBP1	NM_007027.3	29	0,1,5960	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	716/1523	133358890	1,11921	1858	4103	5961	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133358890C>T	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2146G>A	3.37:g.133358890C>T	ENSP00000260810:p.Val716Ile						p.V716I	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			13	2277	-			716			BRCT 5.		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.2146G>A	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164385	0.57476	0.0	1.22E-4	ENSG00000163781	ENST00000260810	D	0.92805	-3.11	5.59	4.71	0.59529	BRCT (4);	0.180469	0.47852	D	0.000215	D	0.90669	0.7073	L	0.60067	1.865	0.80722	D	1	P	0.44195	0.828	B	0.43018	0.405	D	0.90903	0.4770	10	0.51188	T	0.08	.	13.8843	0.63699	0.0:0.9272:0.0:0.0728	.	716	Q92547	TOPB1_HUMAN	I	716	ENSP00000260810:V716I	ENSP00000260810:V716I	V	-	1	0	TOPBP1	134841580	1.000000	0.71417	0.321000	0.25320	0.502000	0.33828	4.966000	0.63715	2.630000	0.89119	0.650000	0.86243	GTT		0.393	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		10	68	0	0	0	1	0	10	68				
DQX1	165545	broad.mit.edu	37	2	74750268	74750268	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr2:74750268C>T	ENST00000404568.3	-	6	1341	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	DQX1_ENST00000393951.2_Silent_p.L374L|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	374	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCTTGCTCGCAATCGTCTTG	0.507																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1120-1122)ttG>ttA		DEAQ box RNA-dependent ATPase 1							182.0	179.0	180.0					2																	74750268		2203	4300	6503	SO:0001819	synonymous_variant	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750268C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1122G>A	2.37:g.74750268C>T						DQX1_ENST00000393951.2_Silent_p.L374L	p.L374L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			6	1341	-			374			Helicase C-terminal.		Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.1122G>A	CCDS1949.2																																																																																				0.507	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		7	193	0	0	0	1	0	7	193				
SPTA1	6708	broad.mit.edu	37	1	158627418	158627418	+	Missense_Mutation	SNP	C	C	T	rs370989483		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:158627418C>T	ENST00000368147.4	-	19	2834	c.2654G>A	c.(2653-2655)cGt>cAt	p.R885H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	885					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTCGAGCACGGAGAGACTC	0.468																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2653-2655)cGt>cAt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	HIS/ARG	4,3996		0,4,1996	166.0	162.0	163.0		2654	-0.4	0.0	1		163	1,8367		0,1,4183	no	missense	SPTA1	NM_003126.2	29	0,5,6179	TT,TC,CC		0.012,0.1,0.0404	benign	885/2420	158627418	5,12363	2000	4184	6184	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627418C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2654G>A	1.37:g.158627418C>T	ENSP00000357129:p.Arg885His					SPTA1_ENST00000368147.3_Missense_Mutation_p.R885H	p.R885H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			19	2834	-	all_hematologic(112;0.0378)		885					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2654G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.645	1.140129	0.21205	0.001	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	4.67	-0.359	0.12571	.	1.560760	0.04732	N	0.421205	T	0.17408	0.0418	L	0.39898	1.24	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.23762	-1.0179	10	0.24483	T	0.36	.	9.0397	0.36309	0.0:0.2422:0.0:0.7578	.	885	P02549	SPTA1_HUMAN	H	885	ENSP00000357130:R885H;ENSP00000357129:R885H	ENSP00000357129:R885H	R	-	2	0	SPTA1	156894042	1.000000	0.71417	0.007000	0.13788	0.143000	0.21401	1.879000	0.39618	-0.123000	0.11745	0.655000	0.94253	CGT		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		15	187	0	0	0	1	0	15	187				
MAK	4117	broad.mit.edu	37	6	10784683	10784683	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr6:10784683T>C	ENST00000313243.2	-	11	1821	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C	MAK_ENST00000474039.1_Missense_Mutation_p.Y480C|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	480					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTGTTTCAAGTAGTACTGTTT	0.418																																						ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(1438-1440)tAc>tGc		male germ cell-associated kinase							137.0	129.0	132.0					6																	10784683		2203	4300	6503	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10784683T>C		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1439A>G	6.37:g.10784683T>C	ENSP00000313021:p.Tyr480Cys					MAK_ENST00000538030.1_3'UTR|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.Y480C|RP11-637O19.3_ENST00000480294.1_Intron	p.Y480C			P20794	MAK_HUMAN			11	1821	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	480					F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.1439A>G	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735008	0.69189	.	.	ENSG00000111837	ENST00000313243;ENST00000354489	D;D	0.83837	-1.77;-1.77	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.88592	0.6478	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90409	0.4408	10	0.87932	D	0	.	12.9447	0.58365	0.0:0.0:0.0:1.0	.	480	P20794	MAK_HUMAN	C	480	ENSP00000313021:Y480C;ENSP00000346484:Y480C	ENSP00000313021:Y480C	Y	-	2	0	MAK	10892669	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.956000	0.63645	1.889000	0.54706	0.460000	0.39030	TAC		0.418	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		6	84	0	0	0	1	0	6	84				
PI16	221476	broad.mit.edu	37	6	36931339	36931339	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr6:36931339C>T	ENST00000373674.3	+	5	1549	c.1221C>T	c.(1219-1221)acC>acT	p.T407T	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	407					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTCTGCCACCGCTAATGCCA	0.612																																						ENST00000373674.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1219-1221)acC>acT		peptidase inhibitor 16							58.0	60.0	59.0					6																	36931339		2203	4300	6503	SO:0001819	synonymous_variant	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36931339C>T		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.1221C>T	6.37:g.36931339C>T						PI16_ENST00000491324.1_Intron	p.T407T	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN			5	1549	+			407					Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Silent	SNP	ENST00000373674.3	37	c.1221C>T	CCDS34440.1																																																																																				0.612	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		4	110	0	0	0	1	0	4	110				
GCSAML	148823	broad.mit.edu	37	1	247712451	247712451	+	5'UTR	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:247712451G>T	ENST00000366488.4	+	0	62				GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Missense_Mutation_p.W107L|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000536561.1_5'UTR	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like																		TTCCCCAAGTGGAGTGAAACT	0.517																																						ENST00000366490.3																			0											c.(319-321)tGg>tTg		germinal center-associated, signaling and motility-like							71.0	68.0	69.0					1																	247712451		2203	4300	6503	SO:0001623	5_prime_UTR_variant	148823							g.chr1:247712451G>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.-43G>T	1.37:g.247712451G>T						GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000536561.1_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron	p.W107L							4	478	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.320G>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	G	6.255	0.415155	0.11870	.	.	ENSG00000169224	ENST00000366490	.	.	.	2.44	-0.632	0.11523	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.22317	N	0.999205	.	.	.	.	.	.	T	0.38286	-0.9668	5	0.87932	D	0	.	3.0993	0.06320	0.2889:0.2305:0.4806:0.0	.	.	.	.	L	107	.	ENSP00000355446:W107L	W	+	2	0	C1orf150	245779074	0.063000	0.20901	0.000000	0.03702	0.012000	0.07955	0.884000	0.28214	-0.144000	0.11314	-1.239000	0.01543	TGG		0.517	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		3	53	1	0	1	1	1	3	53				
FAM199X	139231	broad.mit.edu	37	X	103432835	103432835	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chrX:103432835G>A	ENST00000493442.1	+	5	1010	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	282	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CAGTGCCAGCGCCAGCAGCAG	0.567																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(844-846)Gcc>Acc		family with sequence similarity 199, X-linked							106.0	97.0	100.0					X																	103432835		2203	4300	6503	SO:0001583	missense	139231							g.chrX:103432835G>A	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.844G>A	X.37:g.103432835G>A	ENSP00000417581:p.Ala282Thr					FAM199X_ENST00000299906.5_3'UTR	p.A282T	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN			5	1010	+			282			Ser-rich.		Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.844G>A	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716669	0.30413	.	.	ENSG00000123575	ENST00000493442	T	0.45668	0.89	5.15	5.15	0.70609	.	0.517672	0.19964	N	0.102141	T	0.24470	0.0593	N	0.08118	0	0.35979	D	0.835852	B;B	0.25743	0.001;0.133	B;B	0.17433	0.001;0.018	T	0.20009	-1.0288	9	.	.	.	-3.0162	16.8491	0.85989	0.0:0.0:1.0:0.0	.	282;282	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	T	282	ENSP00000417581:A282T	.	A	+	1	0	FAM199X	103319491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.979000	0.76154	2.270000	0.75569	0.506000	0.49869	GCC		0.567	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		4	76	0	0	0	1	0	4	76				
PPP2R2B	5521	broad.mit.edu	37	5	146070770	146070770	+	Missense_Mutation	SNP	C	C	T	rs374783257		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr5:146070770C>T	ENST00000394413.3	-	4	938	c.368G>A	c.(367-369)cGt>cAt	p.R123H	PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R126H|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R123H|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R123H|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R129H|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R189H|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R123H|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R181H			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	123					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTTATCACGCTCGCTGAC	0.507																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(367-369)cGt>cAt		protein phosphatase 2, regulatory subunit B, beta		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	103.0	101.0		368,368,368,368,377,308,335	5.8	1.0	5		101	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	123/444,123/444,123/444,123/444,126/447,103/424,112/433	146070770	1,13005	2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146070770C>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.368G>A	5.37:g.146070770C>T	ENSP00000377935:p.Arg123His					PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R123H|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R129H|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R181H|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R126H|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R189H|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R123H|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R123H|PPP2R2B_ENST00000530902.1_5'UTR	p.R123H			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	938	-			123					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.368G>A	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567848	0.96540	2.27E-4	0.0	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.85	5.85	0.93711	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.79805	2.47	0.80722	D	1	D;D;D;P;P;D	0.76494	0.999;0.999;0.999;0.58;0.793;0.999	D;P;P;B;B;P	0.64144	0.922;0.896;0.896;0.174;0.072;0.896	T	0.62248	-0.6894	10	0.87932	D	0	-32.0461	20.1577	0.98120	0.0:1.0:0.0:0.0	.	181;129;112;189;126;123	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	H	123;112;189;123;123;123;112;126;129;181	ENSP00000377935:R123H;ENSP00000431320:R112H;ENSP00000377936:R189H;ENSP00000377933:R123H;ENSP00000349283:R123H;ENSP00000398779:R123H;ENSP00000377932:R112H;ENSP00000336591:R126H;ENSP00000421396:R129H;ENSP00000377931:R181H	ENSP00000336591:R126H	R	-	2	0	AC011357.1	146050963	1.000000	0.71417	0.972000	0.41901	0.984000	0.73092	7.461000	0.80834	2.767000	0.95098	0.655000	0.94253	CGT		0.507	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		7	67	0	0	0	1	0	7	67				
RANBP2	5903	broad.mit.edu	37	2	109365452	109365452	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr2:109365452C>T	ENST00000283195.6	+	9	1266	c.1140C>T	c.(1138-1140)agC>agT	p.S380S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	380					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAACAAAAGCGGGCAGTCTG	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1138-1140)agC>agT		RAN binding protein 2							183.0	199.0	194.0					2																	109365452		2203	4300	6503	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365452C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1140C>T	2.37:g.109365452C>T							p.S380S	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1266	+			380					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.1140C>T	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	232	0	0	0	1	0	6	232				
NLRC5	84166	broad.mit.edu	37	16	57088675	57088675	+	Silent	SNP	G	G	A	rs148506460		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr16:57088675G>A	ENST00000262510.6	+	25	3744	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Silent_p.T1173T|NLRC5_ENST00000539144.1_Silent_p.T1173T|NLRC5_ENST00000436936.1_Silent_p.T1173T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1173					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGAGCCAGACGGGACTGTCCC	0.592																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3517-3519)acG>acA		NLR family, CARD domain containing 5		G		1,4395	2.1+/-5.4	0,1,2197	195.0	204.0	201.0		3519	-9.8	0.0	16	dbSNP_134	201	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRC5	NM_032206.3		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		1173/1867	57088675	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57088675G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3519G>A	16.37:g.57088675G>A						NLRC5_ENST00000262510.6_Silent_p.T1173T|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Silent_p.T1173T|NLRC5_ENST00000539144.1_Silent_p.T1173T	p.T1173T			Q86WI3	NLRC5_HUMAN			25	3744	+		all_neural(199;0.225)	1173					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.3519G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	3.387	-0.125202	0.06795	2.27E-4	1.16E-4	ENSG00000140853	ENST00000538805	.	.	.	4.88	-9.77	0.00500	.	.	.	.	.	T	0.16214	0.0390	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10474	-1.0628	4	.	.	.	.	3.2921	0.06953	0.5325:0.181:0.1144:0.1721	.	.	.	.	R	926	.	.	G	+	1	0	NLRC5	55646176	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.067000	0.01383	-2.711000	0.00393	-0.252000	0.11476	GGG		0.592	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		5	410	0	0	0	1	0	5	410				
SPTBN5	51332	broad.mit.edu	37	15	42147470	42147470	+	Silent	SNP	C	C	T	rs374155015		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr15:42147470C>T	ENST00000320955.6	-	55	9602	c.9375G>A	c.(9373-9375)gcG>gcA	p.A3125A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3125					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGCGGTGGCCGCCTTGGTGG	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		16441	0.001		0.0	False		,,,				2504	0.0					ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(9373-9375)gcG>gcA		spectrin, beta, non-erythrocytic 5		C		1,4035		0,1,2017	20.0	25.0	23.0		9270	3.4	0.0	15		23	4,8298		0,4,4147	no	coding-synonymous	SPTBN5	NM_016642.2		0,5,6164	TT,TC,CC		0.0482,0.0248,0.0405		3090/3640	42147470	5,12333	2018	4151	6169	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42147470C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9375G>A	15.37:g.42147470C>T							p.A3125A	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	55	9602	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3125						Silent	SNP	ENST00000320955.6	37	c.9375G>A																																																																																					0.677	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		3	44	0	0	0	1	0	3	44				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	21	0	0	0	1	0	3	21				
PCDHB14	56122	broad.mit.edu	37	5	140605164	140605164	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr5:140605164C>T	ENST00000239449.4	+	1	2087	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	696					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATTGGCCTCGGTGTCGTCG	0.711																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2086-2088)tCg>tTg									85.0	95.0	92.0					5																	140605164		2199	4295	6494	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605164C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2087C>T	5.37:g.140605164C>T	ENSP00000239449:p.Ser696Leu					PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	p.S696L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2087	+			696					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.2087C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	15.46	2.839050	0.51057	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.07114	3.22;3.22	4.17	4.17	0.49024	.	.	.	.	.	T	0.12860	0.0312	M	0.77820	2.39	0.09310	N	1	B	0.28208	0.203	B	0.20184	0.028	T	0.08289	-1.0729	9	0.87932	D	0	.	10.2954	0.43620	0.0:0.9058:0.0:0.0942	.	696	Q9Y5E9	PCDBE_HUMAN	L	543;696	ENSP00000444518:S543L;ENSP00000239449:S696L	ENSP00000239449:S696L	S	+	2	0	PCDHB14	140585348	0.000000	0.05858	0.059000	0.19551	0.051000	0.14879	-0.789000	0.04609	2.022000	0.59522	0.650000	0.86243	TCG		0.711	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		4	203	0	0	0	1	0	4	203				
HS3ST2	9956	broad.mit.edu	37	16	22926769	22926769	+	Silent	SNP	A	A	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr16:22926769A>G	ENST00000261374.3	+	2	1424	c.990A>G	c.(988-990)aaA>aaG	p.K330K		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	330					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCAAATCAAAAGGGAGAACTC	0.418																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(988-990)aaA>aaG		heparan sulfate (glucosamine) 3-O-sulfotransferase 2							141.0	155.0	150.0					16																	22926769		2197	4300	6497	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926769A>G	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.990A>G	16.37:g.22926769A>G							p.K330K	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1424	+			330					Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.990A>G	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	A	8.192	0.796126	0.16327	.	.	ENSG00000122254	ENST00000540146	.	.	.	5.2	1.73	0.24493	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16247	-1.0409	5	0.02654	T	1	.	8.3589	0.32346	0.5606:0.0:0.4394:0.0	.	.	.	.	G	338	.	ENSP00000437678:R338G	R	+	1	2	HS3ST2	22834270	1.000000	0.71417	0.970000	0.41538	0.969000	0.65631	0.892000	0.28322	0.022000	0.15160	-0.379000	0.06801	AGG		0.418	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		4	201	0	0	0	1	0	4	201				
EXO5	64789	broad.mit.edu	37	1	40980662	40980663	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:40980662_40980663delAC	ENST00000372703.1	+	2	1520_1521	c.446_447delAC	c.(445-447)aacfs	p.N149fs	RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs|EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.6_ENST00000437060.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	149					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										AAGTTTCTGAACATACTTTTGC	0.46																																						ENST00000372703.1																			0											c.(445-447)afs		exonuclease 5																																				SO:0001589	frameshift_variant	64789							g.chr1:40980662_40980663delAC	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.446_447delAC	1.37:g.40980662_40980663delAC	ENSP00000361788:p.Asn149fs					EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs	p.N149fs							2	1520_1521	+								D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Frame_Shift_Del	DEL	ENST00000372703.1	37	c.446_447delAC	CCDS453.1																																																																																				0.460	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		7	102						7	102	---	---	---	---
TAPT1	202018	broad.mit.edu	37	4	16189980	16189981	+	Splice_Site	INS	-	-	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr4:16189980_16189981insA	ENST00000405303.2	-	5	696		c.e5-2		TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site|TAPT1_ENST00000508888.1_Splice_Site	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1						embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATCAGCTACCTAAAAAAAAAAA	0.317																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.e5-2		transmembrane anterior posterior transformation 1																																				SO:0001630	splice_region_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16189980_16189981insA	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.613-2->T	4.37:g.16189991_16189991dupA						TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000508888.1_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site		NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			5	696	-								Q8N2S3|Q9NZK9	Splice_Site	INS	ENST00000405303.2	37		CCDS47030.1																																																																																				0.317	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365	Intron	4	7						4	7	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			0							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA								NR_033868.1						0	1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		4	6						4	6	---	---	---	---
NAP1L1	4673	broad.mit.edu	37	12	76444310	76444312	+	Splice_Site	DEL	CAT	CAT	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:76444310_76444312delCAT	ENST00000261182.8	-	12	1544_1546	c.1058_1060delATG	c.(1057-1062)gatgat>gat	p.353_354DD>D	NAP1L1_ENST00000549596.1_Splice_Site_p.353_354DD>D|NAP1L1_ENST00000552342.1_Splice_Site_p.364_365DD>D|NAP1L1_ENST00000548044.1_Splice_Site_p.312_313DD>D|NAP1L1_ENST00000431879.3_Splice_Site_p.285_286DD>D|NAP1L1_ENST00000393263.3_Splice_Site_p.353_354DD>D|NAP1L1_ENST00000547773.1_Splice_Site_p.290_291DD>D|NAP1L1_ENST00000544816.1_Splice_Site_p.170_171DD>D|NAP1L1_ENST00000547993.1_Splice_Site_p.170_171DD>D|NAP1L1_ENST00000542344.1_Splice_Site_p.311_312DD>D|NAP1L1_ENST00000535020.2_Splice_Site_p.353_354DD>D	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	353	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AATTCGCTTACATCATCATCATC	0.345																																						ENST00000261182.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.e12+1		nucleosome assembly protein 1-like 1			,	12,4252		5,2,2125					,	5.7	1.0			67	26,8228		12,2,4113	no	coding-near-splice,coding-near-splice	NAP1L1	NM_139207.2,NM_004537.4	,	17,4,6238	A1A1,A1R,RR		0.315,0.2814,0.3036	,	,		38,12480				SO:0001630	splice_region_variant	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76444310_76444312delCAT		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.1059+1ATG>-	12.37:g.76444319_76444321delCAT						NAP1L1_ENST00000548044.1_Splice_Site_p.D313_splice|NAP1L1_ENST00000542344.1_Splice_Site_p.D312_splice|NAP1L1_ENST00000544816.1_Splice_Site_p.D171_splice|NAP1L1_ENST00000393263.3_Splice_Site_p.D354_splice|NAP1L1_ENST00000552342.1_Splice_Site_p.D365_splice|NAP1L1_ENST00000547773.1_Splice_Site_p.D291_splice|NAP1L1_ENST00000535020.2_Splice_Site_p.D354_splice|NAP1L1_ENST00000547993.1_Splice_Site_p.D171_splice|NAP1L1_ENST00000431879.3_Splice_Site_p.D286_splice|NAP1L1_ENST00000549596.1_Splice_Site_p.D354_splice	p.D354_splice	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			12	1544_1546	-		Colorectal(145;0.09)	354			Asp/Glu-rich (acidic).		B3KNT8	Splice_Site	DEL	ENST00000261182.8	37	c.1059_splice	CCDS9013.1																																																																																				0.345	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207	In_Frame_Del	7	130						7	130	---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110777198	110777199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:110777198_110777199insG	ENST00000539276.2	+	12	1641_1642	c.1532_1533insG	c.(1531-1536)atgtttfs	p.F512fs	ATP2A2_ENST00000395494.2_Frame_Shift_Ins_p.F485fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.F512fs			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	512					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGAGCAAGATGTTTGTGAAGG	0.381																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1450-1452)attfs		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2																																				SO:0001589	frameshift_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110777198_110777199insG		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1533dupG	12.37:g.110777199_110777199dupG	ENSP00000440045:p.Phe512fs					ATP2A2_ENST00000539276.2_Frame_Shift_Ins_p.I511fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.I511fs	p.I484fs			P16615	AT2A2_HUMAN			11	2014_2015	+			511					A6NDN7|B4DF05|P16614|Q86VJ2	Frame_Shift_Ins	INS	ENST00000539276.2	37	c.1451_1452insG	CCDS9144.1																																																																																				0.381	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		18	60						18	60	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112622883	112622885	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:112622883_112622885delGAG	ENST00000430131.2	-	60	9764_9766	c.8619_8621delCTC	c.(8617-8622)tcctcg>tcg	p.2873_2874SS>S	HECTD4_ENST00000550722.1_In_Frame_Del_p.3149_3150SS>S|HECTD4_ENST00000377560.5_In_Frame_Del_p.3123_3124SS>S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2873	Ser-rich.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGGGAGGACGAGGAGGAGGAGG	0.601																																						ENST00000550722.1																			0											c.(9445-9450)tcg>tc		HECT domain containing E3 ubiquitin protein ligase 4				43,3827		0,43,1892						-11.5	0.1			26	91,7885		9,73,3906	no	coding	C12orf51	NM_001109662.2		9,116,5798	A1A1,A1R,RR		1.1409,1.1111,1.1312				134,11712				SO:0001651	inframe_deletion	283450							g.chr12:112622883_112622885delGAG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8619_8621delCTC	12.37:g.112622892_112622894delGAG	ENSP00000404379:p.Ser2876del					HECTD4_ENST00000430131.2_In_Frame_Del_p.SS2875del|HECTD4_ENST00000377560.5_In_Frame_Del_p.SS3125del	p.SS3151del	NM_001109662.3	NP_001103132.3					61	9842_9844	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	In_Frame_Del	DEL	ENST00000430131.2	37	c.9447_9449delCTC																																																																																					0.601	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		3	6						3	6	---	---	---	---
ZFHX2	85446	broad.mit.edu	37	14	23995064	23995066	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr14:23995064_23995066delGCT	ENST00000419474.3	-	9	4440_4442	c.4085_4087delAGC	c.(4084-4089)cagctg>ctg	p.Q1362del	RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000554403.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	1362	Pro-rich.				adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						GGCAGGAGCAGCTGCTGCTGCTG	0.645																																						ENST00000419474.3																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						c.(4084-4089)ctg>c		zinc finger homeobox 2																																				SO:0001651	inframe_deletion	85446					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:23995064_23995066delGCT	AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.4085_4087delAGC	14.37:g.23995073_23995075delGCT	ENSP00000413418:p.Gln1362del					RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA	p.QL1362del	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN			9	4440_4442	-			1362			Pro-rich.		Q9UPU6	In_Frame_Del	DEL	ENST00000419474.3	37	c.4085_4087delAGC	CCDS55907.1																																																																																				0.645	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000346484.3	NM_014894		2	4						2	4	---	---	---	---
RP11-519G16.3	0	broad.mit.edu	37	15	45755914	45755916	+	RNA	DEL	CAC	CAC	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:45755914_45755916delCAC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000559960.1_RNA|RP11-519G16.3_ENST00000559869.1_RNA																							ccaccaccatcaccaccaccacc	0.581																																						ENST00000560077.1																			0																																																			0							g.chr15:45755914_45755916delCAC																													15.37:g.45755923_45755925delCAC						RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA								0	41	+									RNA	DEL	ENST00000560077.1	37																																																																																						0.581	RP11-519G16.3-005	KNOWN	basic	antisense	antisense	OTTHUMT00000416549.1			2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	6						3	6	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					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						CTCCCTGAACGAGAGAGAGAGG	0.495																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1024-1029)tcgtfs		HAUS augmin-like complex, subunit 8																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	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.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs	p.SR342fs			Q9BT25	HAUS8_HUMAN			10	3044_3045	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1026_1027delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		7	399						7	399	---	---	---	---
EXO5	64789	broad.mit.edu	37	1	40980662	40980663	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:40980662_40980663delAC	ENST00000372703.1	+	2	1520_1521	c.446_447delAC	c.(445-447)aacfs	p.N149fs	RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs|EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.6_ENST00000437060.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	149					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										AAGTTTCTGAACATACTTTTGC	0.46																																						ENST00000372703.1																			0											c.(445-447)afs		exonuclease 5																																				SO:0001589	frameshift_variant	64789							g.chr1:40980662_40980663delAC	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.446_447delAC	1.37:g.40980662_40980663delAC	ENSP00000361788:p.Asn149fs					EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs|EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.5_ENST00000453437.1_RNA	p.N149fs							2	1520_1521	+								D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Frame_Shift_Del	DEL	ENST00000372703.1	37	c.446_447delAC	CCDS453.1																																																																																				0.460	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		7	102						7	102	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525																																						ENST00000316073.3																			1	Substitution - Missense(1)	p.R432K(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1294-1299)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128277_152128280delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1295_1298delGACA	1.37:g.152128285_152128288delTGTC	ENSP00000317895:p.Arg432fs						p.RQ432fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1359_1362	-			432			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1295_1298delGACA	CCDS41397.1																																																																																				0.525	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	1215						8	1215	---	---	---	---
TAPT1	202018	broad.mit.edu	37	4	16189980	16189981	+	Splice_Site	INS	-	-	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr4:16189980_16189981insA	ENST00000405303.2	-	5	696		c.e5-2		TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site|TAPT1_ENST00000508888.1_Splice_Site	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1						embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATCAGCTACCTAAAAAAAAAAA	0.317																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.e5-2		transmembrane anterior posterior transformation 1																																				SO:0001630	splice_region_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16189980_16189981insA	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.613-2->T	4.37:g.16189991_16189991dupA						TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site|TAPT1_ENST00000508888.1_Splice_Site		NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			5	696	-								Q8N2S3|Q9NZK9	Splice_Site	INS	ENST00000405303.2	37		CCDS47030.1																																																																																				0.317	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365	Intron	4	7						4	7	---	---	---	---
RP11-284M14.1	0	broad.mit.edu	37	4	143966582	143966592	+	RNA	DEL	AGACCTGCCAA	AGACCTGCCAA	-	rs201320950|rs564155320	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr4:143966582_143966592delAGACCTGCCAA	ENST00000507826.1	-	0	354																											AAGTGACCATAGACCTGCCAAATCCAGACAG	0.441														74	0.0147764	0.0	0.0231	5008	,	,		21031	0.0		0.0547	False		,,,				2504	0.0031					ENST00000507826.1																			0																																																			0							g.chr4:143966582_143966592delAGACCTGCCAA																													4.37:g.143966582_143966592delAGACCTGCCAA														0	354	-									RNA	DEL	ENST00000507826.1	37																																																																																						0.441	RP11-284M14.1-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000364807.1			4	6						4	6	---	---	---	---
LOC100507065	100507065	broad.mit.edu	37	12	65957508	65957510	+	lincRNA	DEL	AGC	AGC	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr12:65957508_65957510delAGC	ENST00000545750.1	+	0	886				RP11-230G5.2_ENST00000546198.1_lincRNA																							cagcagcagaagcagcagcagca	0.502																																						ENST00000546198.1																			0																																																			0							g.chr12:65957508_65957510delAGC																													12.37:g.65957517_65957519delAGC														0	391	-									RNA	DEL	ENST00000545750.1	37																																																																																						0.502	RP11-221N13.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000401464.1			3	4						3	4	---	---	---	---
NAP1L1	4673	broad.mit.edu	37	12	76444310	76444312	+	Splice_Site	DEL	CAT	CAT	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr12:76444310_76444312delCAT	ENST00000261182.8	-	12	1544_1546	c.1058_1060delATG	c.(1057-1062)gatgat>gat	p.353_354DD>D	NAP1L1_ENST00000549596.1_Splice_Site_p.353_354DD>D|NAP1L1_ENST00000552342.1_Splice_Site_p.364_365DD>D|NAP1L1_ENST00000548044.1_Splice_Site_p.312_313DD>D|NAP1L1_ENST00000431879.3_Splice_Site_p.285_286DD>D|NAP1L1_ENST00000393263.3_Splice_Site_p.353_354DD>D|NAP1L1_ENST00000547773.1_Splice_Site_p.290_291DD>D|NAP1L1_ENST00000544816.1_Splice_Site_p.170_171DD>D|NAP1L1_ENST00000547993.1_Splice_Site_p.170_171DD>D|NAP1L1_ENST00000542344.1_Splice_Site_p.311_312DD>D|NAP1L1_ENST00000535020.2_Splice_Site_p.353_354DD>D	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	353	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AATTCGCTTACATCATCATCATC	0.345																																						ENST00000261182.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.e12+1		nucleosome assembly protein 1-like 1			,	12,4252		5,2,2125					,	5.7	1.0			67	26,8228		12,2,4113	no	coding-near-splice,coding-near-splice	NAP1L1	NM_139207.2,NM_004537.4	,	17,4,6238	A1A1,A1R,RR		0.315,0.2814,0.3036	,	,		38,12480				SO:0001630	splice_region_variant	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76444310_76444312delCAT		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.1059+1ATG>-	12.37:g.76444319_76444321delCAT						NAP1L1_ENST00000431879.3_Splice_Site_p.D286_splice|NAP1L1_ENST00000544816.1_Splice_Site_p.D171_splice|NAP1L1_ENST00000547773.1_Splice_Site_p.D291_splice|NAP1L1_ENST00000542344.1_Splice_Site_p.D312_splice|NAP1L1_ENST00000547993.1_Splice_Site_p.D171_splice|NAP1L1_ENST00000549596.1_Splice_Site_p.D354_splice|NAP1L1_ENST00000548044.1_Splice_Site_p.D313_splice|NAP1L1_ENST00000552342.1_Splice_Site_p.D365_splice|NAP1L1_ENST00000535020.2_Splice_Site_p.D354_splice|NAP1L1_ENST00000393263.3_Splice_Site_p.D354_splice	p.D354_splice	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			12	1544_1546	-		Colorectal(145;0.09)	354			Asp/Glu-rich (acidic).		B3KNT8	Splice_Site	DEL	ENST00000261182.8	37	c.1059_splice	CCDS9013.1																																																																																				0.345	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207	In_Frame_Del	7	130						7	130	---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110777198	110777199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr12:110777198_110777199insG	ENST00000539276.2	+	12	1641_1642	c.1532_1533insG	c.(1531-1536)atgtttfs	p.F512fs	ATP2A2_ENST00000395494.2_Frame_Shift_Ins_p.F485fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.F512fs			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	512					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGAGCAAGATGTTTGTGAAGG	0.381																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1450-1452)attfs		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2																																				SO:0001589	frameshift_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110777198_110777199insG		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1533dupG	12.37:g.110777199_110777199dupG	ENSP00000440045:p.Phe512fs					ATP2A2_ENST00000539276.2_Frame_Shift_Ins_p.I511fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.I511fs	p.I484fs			P16615	AT2A2_HUMAN			11	2014_2015	+			511					A6NDN7|B4DF05|P16614|Q86VJ2	Frame_Shift_Ins	INS	ENST00000539276.2	37	c.1451_1452insG	CCDS9144.1																																																																																				0.381	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		18	60						18	60	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112622883	112622885	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr12:112622883_112622885delGAG	ENST00000430131.2	-	60	9764_9766	c.8619_8621delCTC	c.(8617-8622)tcctcg>tcg	p.2873_2874SS>S	HECTD4_ENST00000550722.1_In_Frame_Del_p.3149_3150SS>S|HECTD4_ENST00000377560.5_In_Frame_Del_p.3123_3124SS>S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2873	Ser-rich.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGGGAGGACGAGGAGGAGGAGG	0.601																																						ENST00000550722.1																			0											c.(9445-9450)tcg>tc		HECT domain containing E3 ubiquitin protein ligase 4				43,3827		0,43,1892						-11.5	0.1			26	91,7885		9,73,3906	no	coding	C12orf51	NM_001109662.2		9,116,5798	A1A1,A1R,RR		1.1409,1.1111,1.1312				134,11712				SO:0001651	inframe_deletion	283450							g.chr12:112622883_112622885delGAG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8619_8621delCTC	12.37:g.112622892_112622894delGAG	ENSP00000404379:p.Ser2876del					HECTD4_ENST00000377560.5_In_Frame_Del_p.SS3125del|HECTD4_ENST00000430131.2_In_Frame_Del_p.SS2875del	p.SS3151del	NM_001109662.3	NP_001103132.3					61	9842_9844	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	In_Frame_Del	DEL	ENST00000430131.2	37	c.9447_9449delCTC																																																																																					0.601	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		3	6						3	6	---	---	---	---
RP11-519G16.3	0	broad.mit.edu	37	15	45755914	45755916	+	RNA	DEL	CAC	CAC	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr15:45755914_45755916delCAC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000559960.1_RNA|RP11-519G16.3_ENST00000559869.1_RNA																							ccaccaccatcaccaccaccacc	0.581																																						ENST00000560077.1																			0																																																			0							g.chr15:45755914_45755916delCAC																													15.37:g.45755923_45755925delCAC						RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA								0	41	+									RNA	DEL	ENST00000560077.1	37																																																																																						0.581	RP11-519G16.3-005	KNOWN	basic	antisense	antisense	OTTHUMT00000416549.1			2	4						2	4	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(25-27)ggc>GGCggc	p.9_9G>GG		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	9	Poly-Gly.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772														1448	0.289137	0.0772	0.3199	5008	,	,		6733	0.3968		0.4165	False		,,,				2504	0.3119					ENST00000316249.3																			2	Insertion - In frame(2)	p.P8_G9insG(2)	upper_aerodigestive_tract(2)	breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(22-27)ccgcgg>ccGGCgcgg		potassium voltage-gated channel, subfamily G, member 2																																				SO:0001652	inframe_insertion	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623691_77623692insGGC	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.34_36dupGGC	18.37:g.77623698_77623700dupGGC	ENSP00000315654:p.Gly13dup						p.8_9PR>PAR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	24_25	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	8						In_Frame_Ins	INS	ENST00000316249.3	37	c.24_25insGGC	CCDS12019.1																																																																																				0.772	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		2	4						2	4	---	---	---	---
SF3A2	8175	broad.mit.edu	37	19	2248332	2248332	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:2248332delC	ENST00000221494.5	+	9	1600	c.1182delC	c.(1180-1182)cacfs	p.H394fs	MIR4321_ENST00000592276.1_RNA|AMH_ENST00000221496.4_5'Flank	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	394	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGGTGCACCCACCAGCCC	0.756																																						ENST00000221494.4																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(1180-1182)cafs		splicing factor 3a, subunit 2, 66kDa							2.0	3.0	3.0					19																	2248332		1733	3611	5344	SO:0001589	frameshift_variant	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2248332delC	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1182delC	19.37:g.2248332delC	ENSP00000221494:p.His394fs						p.H394fs	NM_007165.4	NP_009096.2	Q15428	SF3A2_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)	9	1600	+		Hepatocellular(1079;0.137)	394			Pro-rich.		B2RBU1|D6W605|O75245	Frame_Shift_Del	DEL	ENST00000221494.5	37	c.1182delC	CCDS12084.1																																																																																				0.756	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			2	4						2	4	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142441	21142442	+	RNA	INS	-	-	A	rs377451007|rs113752643|rs570165711	byFrequency	TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr20:21142441_21142442insA	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TTCATTTCTGGAAAAAAAAAAA	0.366																																						ENST00000591761.1																			0																																																			0							g.chr20:21142441_21142442insA																													20.37:g.21142452_21142452dupA						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5142	-									RNA	INS	ENST00000591761.1	37																																																																																						0.366	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			3	3						3	3	---	---	---	---
