#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_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NOL9	79707	broad.mit.edu	37	1	6592578	6592578	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:6592578G>A	ENST00000377705.5	-	8	1512	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	494					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)	p.H494Y(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAGTTTATGTCCAGTGAAC	0.393																																						uc001ans.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1480-1482)CAT>TAT		nucleolar protein 9							103.0	108.0	106.0					1																	6592578		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6592578G>A	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1480C>T	1.37:g.6592578G>A	ENSP00000366934:p.His494Tyr					NOL9_uc010nzs.1_RNA	p.H494Y	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	8	1499	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	494					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.1480C>T	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408988	0.25378	.	.	ENSG00000162408	ENST00000377705	T	0.21734	1.99	5.94	1.99	0.26369	Pre-mRNA cleavage complex II Clp1 (1);	0.218215	0.38778	N	0.001574	T	0.14527	0.0351	L	0.37561	1.115	0.32222	N	0.575046	B	0.20550	0.046	B	0.22601	0.04	T	0.14476	-1.0471	10	0.29301	T	0.29	-12.0413	7.3856	0.26880	0.3602:0.0:0.6398:0.0	.	494	Q5SY16	NOL9_HUMAN	Y	494	ENSP00000366934:H494Y	ENSP00000366934:H494Y	H	-	1	0	NOL9	6515165	0.638000	0.27225	0.014000	0.15608	0.465000	0.32709	1.171000	0.31896	0.116000	0.18110	0.561000	0.74099	CAT		PASS	0.393	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		37	20	37	20	---	---	---	---
DRAXIN	374946	broad.mit.edu	37	1	11766340	11766340	+	Missense_Mutation	SNP	G	G	A	rs141904724		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:11766340G>A	ENST00000294485.5	+	2	160	c.25G>A	c.(25-27)Gct>Act	p.A9T		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein									p.A9T(1)									CATCCACACCGCTCCCATGCT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		15422	0.001		0.0	False		,,,				2504	0.0					uc001asr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(25-27)GCT>ACT		chromosome 1 open reading frame 187 precursor							21.0	23.0	23.0					1																	11766340		2202	4300	6502	SO:0001583	missense	374946				axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr1:11766340G>A	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.25G>A	1.37:g.11766340G>A	ENSP00000294485:p.Ala9Thr						p.A9T	NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)	2	165	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-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)	9						Missense_Mutation	SNP	ENST00000294485.5	37	c.25G>A	CCDS135.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946601	0.34377	.	.	ENSG00000162490	ENST00000294485	T	0.46819	0.86	4.81	0.114	0.14639	.	1.171010	0.06349	N	0.709519	T	0.27832	0.0685	N	0.16478	0.41	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.18085	-1.0348	10	0.25106	T	0.35	-6.0958	4.1043	0.10030	0.2067:0.0:0.3249:0.4684	.	9	Q8NBI3	DRAXI_HUMAN	T	9	ENSP00000294485:A9T	ENSP00000294485:A9T	A	+	1	0	C1orf187	11688927	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.150000	0.16263	0.092000	0.17331	0.407000	0.27541	GCT		PASS	0.637	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		10	2	10	2	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16893800	16893800	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:16893800C>A	ENST00000430580.2	-	25	3600	c.2713G>T	c.(2713-2715)Gac>Tac	p.D905Y	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	905	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCCAGTGAGTCCTGCAAGACT	0.478																																						uc009vos.1																			0					0						c.(2938-2940)GAC>TAC		hypothetical protein LOC55672							403.0	365.0	378.0					1																	16893800		2202	4285	6487	SO:0001583	missense	55672					cytoplasm		g.chr1:16893800C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2713G>T	1.37:g.16893800C>A	ENSP00000474456:p.Asp905Tyr					NBPF1_uc009vot.1_Missense_Mutation_p.D363Y|NBPF1_uc001ayz.1_Missense_Mutation_p.D363Y|NBPF1_uc010oce.1_Missense_Mutation_p.D634Y	p.D980Y	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	26	3826	-			980			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2938G>T																																																																																					PASS	0.478	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		8	758	8	758	---	---	---	---
PLA2G5	5322	broad.mit.edu	37	1	20412680	20412680	+	Missense_Mutation	SNP	G	G	A	rs387906796		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:20412680G>A	ENST00000375108.3	+	3	413	c.145G>A	c.(145-147)Ggc>Agc	p.G49S	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	49			G -> S (in FRFB). {ECO:0000269|PubMed:22137173}.		arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)	p.G49S(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CTGTTACTGCGGCTGGGGCGG	0.552																																						uc001bcy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(145-147)GGC>AGC		phospholipase A2, group V precursor							84.0	78.0	80.0					1																	20412680		2203	4300	6503	SO:0001583	missense	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20412680G>A	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.145G>A	1.37:g.20412680G>A	ENSP00000364249:p.Gly49Ser					PLA2G5_uc001bcw.2_RNA|PLA2G5_uc001bcx.2_Missense_Mutation_p.G80S	p.G49S	NM_000929	NP_000920	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	3	413	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	49				Calcium; via carbonyl oxygen (By similarity).	Q8N435	Missense_Mutation	SNP	ENST00000375108.3	37	c.145G>A	CCDS202.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560511	0.86335	.	.	ENSG00000127472	ENST00000375108	D	0.94457	-3.43	5.26	5.26	0.73747	Phospholipase A2 (3);	0.000000	0.64402	D	0.000015	D	0.97679	0.9239	M	0.91972	3.26	0.44652	D	0.997639	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98316	1.0526	10	0.87932	D	0	-31.3248	14.7313	0.69383	0.0:0.0:1.0:0.0	.	49;22	P39877;B3KUQ4	PA2G5_HUMAN;.	S	49	ENSP00000364249:G49S	ENSP00000364249:G49S	G	+	1	0	PLA2G5	20285267	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.239000	0.65371	2.620000	0.88729	0.655000	0.94253	GGC		PASS	0.552	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		15	8	15	8	---	---	---	---
OPRD1	4985	broad.mit.edu	37	1	29189553	29189553	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:29189553G>C	ENST00000234961.2	+	3	1119	c.877G>C	c.(877-879)Gac>Cac	p.D293H		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	293					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)	p.D293H(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGACCGGCGCGACCCGCTGGT	0.637																																						uc001brf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(877-879)GAC>CAC		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						27.0	23.0	24.0					1																	29189553		2203	4297	6500	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189553G>C	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.877G>C	1.37:g.29189553G>C	ENSP00000234961:p.Asp293His						p.D293H	NM_000911	NP_000902	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	1119	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	293			Extracellular (Potential).		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.877G>C	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467147	0.63625	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.37058	1.22	4.06	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	0.168332	0.50627	D	0.000111	T	0.22513	0.0543	N	0.20986	0.625	0.39981	D	0.974913	B	0.22746	0.074	B	0.30105	0.111	T	0.08452	-1.0721	10	0.56958	D	0.05	.	4.7806	0.13201	0.3782:0.0:0.6218:0.0	.	293	P41143	OPRD_HUMAN	H	293;245	ENSP00000234961:D293H	ENSP00000234961:D293H	D	+	1	0	OPRD1	29062140	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.491000	0.60326	0.917000	0.36895	0.462000	0.41574	GAC		PASS	0.637	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		5	2	5	2	---	---	---	---
YBX1	4904	broad.mit.edu	37	1	43161906	43161906	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:43161906C>T	ENST00000321358.7	+	4	440	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	YBX1_ENST00000467957.1_3'UTR	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	101	CSD.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.R101C(1)		large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAAGTACCTTCGCAGTGTAGG	0.363																																						uc001chs.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)	5						c.(301-303)CGC>TGC		nuclease sensitive element binding protein 1							184.0	167.0	173.0					1																	43161906		2203	4300	6503	SO:0001583	missense	4904				CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:43161906C>T	BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.301C>T	1.37:g.43161906C>T	ENSP00000361626:p.Arg101Cys						p.R101C	NM_004559	NP_004550	P67809	YBOX1_HUMAN			4	472	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	101			CSD.		P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	ENST00000321358.7	37	c.301C>T	CCDS470.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029135	0.75504	.	.	ENSG00000065978	ENST00000321358;ENST00000318612	T	0.50277	0.75	5.41	5.41	0.78517	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.225081	0.56097	N	0.000033	T	0.76271	0.3964	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82196	-0.0577	10	0.87932	D	0	-4.7332	17.0384	0.86482	0.0:1.0:0.0:0.0	.	101	P67809	YBOX1_HUMAN	C	101;97	ENSP00000361626:R101C	ENSP00000361621:R97C	R	+	1	0	YBX1	42934493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.291000	0.78721	2.683000	0.91414	0.563000	0.77884	CGC		PASS	0.363	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		36	17	36	17	---	---	---	---
KIF2C	11004	broad.mit.edu	37	1	45232773	45232773	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:45232773C>T	ENST00000372224.4	+	21	2213	c.2100C>T	c.(2098-2100)gtC>gtT	p.V700V	KIF2C_ENST00000372222.3_Silent_p.V587V|KIF2C_ENST00000372218.4_Silent_p.V659V|KIF2C_ENST00000372217.1_Silent_p.V646V|RP11-269F19.2_ENST00000428791.1_RNA	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	700					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.V700V(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTCCAGATGTCATCAAGGCCT	0.537																																						uc001cmg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2098-2100)GTC>GTT		kinesin family member 2C							107.0	114.0	111.0					1																	45232773		2203	4300	6503	SO:0001819	synonymous_variant	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45232773C>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.2100C>T	1.37:g.45232773C>T						KIF2C_uc010olb.1_Silent_p.V659V|KIF2C_uc010olc.1_Silent_p.V587V|KIF2C_uc001cmh.3_Silent_p.V646V	p.V700V	NM_006845	NP_006836	Q99661	KIF2C_HUMAN			21	2215	+	Acute lymphoblastic leukemia(166;0.155)		700					B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Silent	SNP	ENST00000372224.4	37	c.2100C>T	CCDS512.1																																																																																				PASS	0.537	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		34	6	34	6	---	---	---	---
PRDX1	5052	broad.mit.edu	37	1	45981401	45981401	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:45981401C>G	ENST00000262746.1	-	3	524	c.185G>C	c.(184-186)aGg>aCg	p.R62T	PRDX1_ENST00000483583.1_5'UTR|PRDX1_ENST00000319248.8_Missense_Mutation_p.R62T|PRDX1_ENST00000372079.1_Intron	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	62	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.		R -> G (in dbSNP:rs34034070). {ECO:0000269|Ref.5}.		cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)	p.R62T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					TTCTTCTGCCCTATCACTGAA	0.428																																						uc001cnz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)AGG>ACG		peroxiredoxin 1							117.0	113.0	114.0					1																	45981401		2203	4300	6503	SO:0001583	missense	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45981401C>G	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.185G>C	1.37:g.45981401C>G	ENSP00000262746:p.Arg62Thr					PRDX1_uc001coa.2_Missense_Mutation_p.R62T|PRDX1_uc001cob.2_Missense_Mutation_p.R62T|PRDX1_uc001coc.2_Missense_Mutation_p.R62T	p.R62T	NM_181697	NP_859048	Q06830	PRDX1_HUMAN			2	217	-	Acute lymphoblastic leukemia(166;0.155)		62			Thioredoxin.		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	37	c.185G>C	CCDS522.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120203	0.77323	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000447184;ENST00000424390	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.9	4.99	0.66335	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.149100	0.64402	D	0.000017	T	0.41003	0.1140	M	0.89353	3.025	0.40840	D	0.983667	D	0.54047	0.964	P	0.59761	0.863	T	0.53858	-0.8379	10	0.87932	D	0	-14.4401	15.3367	0.74263	0.0:0.933:0.0:0.067	.	62	Q06830	PRDX1_HUMAN	T	62	ENSP00000262746:R62T;ENSP00000361152:R62T;ENSP00000407034:R62T;ENSP00000389047:R62T	ENSP00000262746:R62T	R	-	2	0	PRDX1	45753988	0.788000	0.28762	0.999000	0.59377	0.994000	0.84299	3.185000	0.50934	1.504000	0.48704	0.563000	0.77884	AGG		PASS	0.428	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		17	32	17	32	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92200510	92200510	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:92200510C>G	ENST00000525962.1	-	4	452	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	TGFBR3_ENST00000370399.2_Missense_Mutation_p.E131Q|TGFBR3_ENST00000212355.4_Missense_Mutation_p.E131Q|TGFBR3_ENST00000468996.2_5'UTR			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	131					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E131Q(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACAGAACCCTCAGACACCTAG	0.418																																						uc001doh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(391-393)GAG>CAG		transforming growth factor, beta receptor III							121.0	121.0	121.0					1																	92200510		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92200510C>G	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.391G>C	1.37:g.92200510C>G	ENSP00000436127:p.Glu131Gln					TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.E89Q|TGFBR3_uc001doi.2_Missense_Mutation_p.E131Q|TGFBR3_uc001doj.2_Missense_Mutation_p.E131Q	p.E131Q	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	5	857	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	131			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.391G>C	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	c	9.869	1.198325	0.22037	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.73	-4.73	0.03259	.	1.087150	0.06838	N	0.795105	T	0.04634	0.0126	N	0.22421	0.69	0.09310	N	1	B;B	0.17268	0.006;0.021	B;B	0.12156	0.003;0.007	T	0.33650	-0.9860	9	.	.	.	-1.5166	3.4611	0.07533	0.0822:0.2706:0.3106:0.3367	.	131;131	Q03167-2;Q03167	.;TGBR3_HUMAN	Q	131	ENSP00000212355:E131Q;ENSP00000359426:E131Q;ENSP00000436127:E131Q;ENSP00000432638:E131Q	.	E	-	1	0	TGFBR3	91973098	0.000000	0.05858	0.192000	0.23308	0.939000	0.58152	-1.488000	0.02308	-1.217000	0.02604	-0.739000	0.03532	GAG		PASS	0.418	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		48	19	48	19	---	---	---	---
EXTL2	2135	broad.mit.edu	37	1	101339555	101339555	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:101339555G>A	ENST00000370114.3	-	5	2372	c.936C>T	c.(934-936)tcC>tcT	p.S312S	EXTL2_ENST00000535414.1_Silent_p.S299S|EXTL2_ENST00000370113.3_Silent_p.S312S	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	312					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.S312S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TCATAATGTTGGAGTATCTTA	0.353																																						uc001dtk.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(934-936)TCC>TCT		exostoses-like 2							74.0	76.0	75.0					1																	101339555		2203	4299	6502	SO:0001819	synonymous_variant	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339555G>A	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.936C>T	1.37:g.101339555G>A						EXTL2_uc001dtl.1_Silent_p.S312S|EXTL2_uc010ouk.1_Silent_p.S299S|EXTL2_uc001dtm.1_Silent_p.S311S	p.S312S	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	1273	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	312			Lumenal (Potential).		B2R795|D3DT60	Silent	SNP	ENST00000370114.3	37	c.936C>T	CCDS775.1																																																																																				PASS	0.353	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		32	14	32	14	---	---	---	---
TRIM45	80263	broad.mit.edu	37	1	117663389	117663389	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:117663389C>G	ENST00000256649.4	-	1	961	c.435G>C	c.(433-435)aaG>aaC	p.K145N	TRIM45_ENST00000369461.3_Missense_Mutation_p.K88N|TRIM45_ENST00000369464.3_Missense_Mutation_p.K145N	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	145					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K145N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TCTGACACCTCTTCTCTACTT	0.542																																						uc001egz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(433-435)AAG>AAC		tripartite motif-containing 45 isoform 1							105.0	93.0	97.0					1																	117663389		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117663389C>G		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.435G>C	1.37:g.117663389C>G	ENSP00000256649:p.Lys145Asn					TRIM45_uc009whe.2_Missense_Mutation_p.K145N|TRIM45_uc001eha.2_Missense_Mutation_p.K41N	p.K145N	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	1	1023	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	145			B box-type 1.		Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.435G>C	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187527	0.38609	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	T;T;T	0.41758	0.99;0.99;0.99	5.0	4.02	0.46733	Zinc finger, B-box (3);	0.197847	0.53938	D	0.000050	T	0.21387	0.0515	L	0.34521	1.04	0.43043	D	0.994639	B;B	0.20261	0.034;0.043	B;B	0.25759	0.038;0.063	T	0.04840	-1.0923	10	0.39692	T	0.17	-31.3044	15.0194	0.71617	0.1517:0.8483:0.0:0.0	.	145;145	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	N	145;145;88	ENSP00000256649:K145N;ENSP00000358476:K145N;ENSP00000358473:K88N	ENSP00000256649:K145N	K	-	3	2	TRIM45	117464912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.602000	0.46257	2.579000	0.87056	0.561000	0.74099	AAG		PASS	0.542	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		21	9	21	9	---	---	---	---
WARS2	10352	broad.mit.edu	37	1	119584928	119584928	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:119584928G>A	ENST00000235521.4	-	4	500	c.474C>T	c.(472-474)ctC>ctT	p.L158L	WARS2_ENST00000537870.1_Silent_p.L64L|WARS2_ENST00000369426.5_Silent_p.L158L	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	158					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.L158L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CTGGGTATGTGAGCAGGCCCA	0.468																																						uc001ehn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(472-474)CTC>CTT		mitochondrial tryptophanyl tRNA synthetase 2	L-Tryptophan(DB00150)						156.0	138.0	144.0					1																	119584928		2203	4300	6503	SO:0001819	synonymous_variant	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119584928G>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.474C>T	1.37:g.119584928G>A						WARS2_uc010oxf.1_Silent_p.L64L|WARS2_uc001ehm.2_Silent_p.L158L|WARS2_uc010oxg.1_Silent_p.L101L|WARS2_uc010oxh.1_Intron|WARS2_uc010oxi.1_Intron	p.L158L	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	4	502	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	158					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Silent	SNP	ENST00000235521.4	37	c.474C>T	CCDS900.1																																																																																				PASS	0.468	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		34	21	34	21	---	---	---	---
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587																																						uc001etc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(160-162)GGC>GAC		histone cluster 2, H2be							179.0	169.0	173.0					1																	149858030		2203	4298	6501	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149858030C>T	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.161G>A	1.37:g.149858030C>T	ENSP00000358151:p.Gly54Asp					HIST2H2AC_uc001etd.2_5'Flank	p.G54D	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	203	-	Breast(34;0.0124)|all_hematologic(923;0.127)		54					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.161G>A	CCDS936.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885533	0.91814	.	.	ENSG00000184678	ENST00000369155	T	0.69435	-0.4	5.89	5.89	0.94794	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	M	0.93150	3.385	0.50171	D	0.999859	D	0.61697	0.99	D	0.64595	0.927	D	0.87651	0.2528	10	0.87932	D	0	.	18.9081	0.92471	0.0:1.0:0.0:0.0	.	54	Q16778	H2B2E_HUMAN	D	54	ENSP00000358151:G54D	ENSP00000358151:G54D	G	-	2	0	HIST2H2BE	148124654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.820000	0.69250	2.810000	0.96702	0.586000	0.80456	GGC		PASS	0.587	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		4	152	4	152	---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153658607	153658607	+	Silent	SNP	C	C	T	rs565874749		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:153658607C>T	ENST00000368680.3	+	10	2161	c.1689C>T	c.(1687-1689)ctC>ctT	p.L563L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.L563L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGGGCAACCTCGTGGCTGTGA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19509	0.0		0.0	False		,,,				2504	0.001				Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(1687-1689)CTC>CTT		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						115.0	92.0	99.0					1																	153658607		2203	4300	6503	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153658607C>T	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1689C>T	1.37:g.153658607C>T						NPR1_uc010pdz.1_Silent_p.L309L|NPR1_uc010pea.1_Intron	p.L563L	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	2110	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		563			Cytoplasmic (Potential).|Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.1689C>T	CCDS1051.1																																																																																				PASS	0.552	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		6	10	6	10	---	---	---	---
RUSC1	23623	broad.mit.edu	37	1	155290668	155290668	+	5'Flank	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:155290668G>A	ENST00000368352.5	+	0	0				RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGCAGCTGCGCAGCGCAGGG	0.667																																						uc001fki.2																			0					0						c.(610-612)TGC>TGT		hypothetical protein LOC284618							28.0	31.0	30.0					1																	155290668		1995	4158	6153	SO:0001631	upstream_gene_variant	284618							g.chr1:155290668G>A	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910		1.37:g.155290668G>A	Exception_encountered					RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'UTR|RUSC1_uc001fkk.2_5'UTR|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	p.C204C	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	889	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		204					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	c.612C>T	CCDS41410.1																																																																																				PASS	0.667	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			4	5	4	5	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158735720	158735720	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:158735720G>A	ENST00000335094.2	-	1	772	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F251F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGCTCCCATAGAAGATGAGAA	0.537																																						uc010piq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(751-753)TTC>TTT		olfactory receptor, family 6, subfamily N,							173.0	163.0	167.0					1																	158735720		2203	4300	6503	SO:0001819	synonymous_variant	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735720G>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.753C>T	1.37:g.158735720G>A							p.F251F	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	753	-	all_hematologic(112;0.0378)		251			Helical; Name=6; (Potential).		Q5VUU8|Q96R35	Silent	SNP	ENST00000335094.2	37	c.753C>T	CCDS30905.1																																																																																				PASS	0.537	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		43	44	43	44	---	---	---	---
AIM2	9447	broad.mit.edu	37	1	159043196	159043196	+	Nonsense_Mutation	SNP	C	C	A	rs2276405	byFrequency	TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:159043196C>A	ENST00000368130.4	-	2	382	c.94G>T	c.(94-96)Gag>Tag	p.E32*	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	32	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.		E -> K (in dbSNP:rs2276405). {ECO:0000269|PubMed:17726700}.		activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)	p.E32*(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ATATTAAACTCGTCTGAAAGA	0.413																																						uc001ftj.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(94-96)GAG>TAG		absent in melanoma 2							109.0	105.0	107.0					1																	159043196		2203	4300	6503	SO:0001587	stop_gained	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159043196C>A	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.94G>T	1.37:g.159043196C>A	ENSP00000357112:p.Glu32*						p.E32*	NM_004833	NP_004824	O14862	AIM2_HUMAN			2	339	-	all_hematologic(112;0.0429)		32			DAPIN.		A8K7M7|Q5T3V9|Q96FG9	Nonsense_Mutation	SNP	ENST00000368130.4	37	c.94G>T	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802381	0.96960	.	.	ENSG00000163568	ENST00000368130;ENST00000411768	.	.	.	3.76	1.86	0.25419	.	.	.	.	.	.	.	.	.	.	.	0.09310	P	0.9999999999998292	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.7046	5.7614	0.18203	0.0:0.7487:0.0:0.2513	.	.	.	.	X	32	.	ENSP00000357112:E32X	E	-	1	0	AIM2	157309820	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	0.073000	0.14640	0.367000	0.24454	0.561000	0.74099	GAG		PASS	0.413	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		3	60	3	60	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181701980	181701980	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:181701980C>A	ENST00000367573.2	+	20	2758	c.2758C>A	c.(2758-2760)Cgc>Agc	p.R920S	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R527S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R920S|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R901S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R871S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R852S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R901S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	920					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R920S(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGCCAACGGCGCAGCCGGCA	0.652																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2758-2760)CGC>AGC		calcium channel, voltage-dependent, R type,							50.0	59.0	56.0					1																	181701980		2122	4241	6363	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701980C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2758C>A	1.37:g.181701980C>A	ENSP00000356545:p.Arg920Ser					CACNA1E_uc009wxs.2_Missense_Mutation_p.R808S|CACNA1E_uc001gox.1_Missense_Mutation_p.R146S|CACNA1E_uc009wxt.2_Missense_Mutation_p.R146S	p.R920S	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			20	2923	+			920			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2758C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986389	0.74589	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96011	-3.82;-3.83;-3.83;-3.83;-3.88;-3.83;-3.83	4.13	4.13	0.48395	.	0.942416	0.08881	N	0.880021	D	0.90943	0.7153	N	0.08118	0	0.53688	D	0.999975	P;P;P	0.44690	0.79;0.841;0.79	B;B;B	0.42030	0.3;0.373;0.3	D	0.88088	0.2811	10	0.45353	T	0.12	.	17.3004	0.87181	0.0:1.0:0.0:0.0	.	901;920;920	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	S	920;901;871;852;527;901;920	ENSP00000356542:R920S;ENSP00000434814:R901S;ENSP00000350183:R871S;ENSP00000351101:R852S;ENSP00000356539:R527S;ENSP00000353222:R901S;ENSP00000356545:R920S	ENSP00000350183:R871S	R	+	1	0	CACNA1E	179968603	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.557000	0.53741	2.592000	0.87571	0.555000	0.69702	CGC		PASS	0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		35	38	35	38	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181765941	181765941	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:181765941C>T	ENST00000367573.2	+	47	6346	c.6346C>T	c.(6346-6348)Cgc>Tgc	p.R2116C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1680C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2073C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R2054C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2067C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2005C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2097C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2116					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R2073C(2)|p.R2116C(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTCCCCAGAGCGCCGTCAATC	0.602																																						uc001gow.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(6217-6219)CGC>TGC		calcium channel, voltage-dependent, R type,							25.0	28.0	27.0					1																	181765941		2020	4185	6205	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181765941C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6346C>T	1.37:g.181765941C>T	ENSP00000356545:p.Arg2116Cys					CACNA1E_uc009wxs.2_Missense_Mutation_p.R1961C|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1342C	p.R2073C	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			46	6382	+			2116			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6217C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114487	0.77210	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96967	-4.11;-4.11;-4.04;-4.11;-4.19;-4.04;-4.04	5.91	5.0	0.66597	.	0.410282	0.28036	N	0.016858	D	0.96528	0.8867	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.72625	0.978;0.855	D	0.97090	0.9790	10	0.62326	D	0.03	.	14.9545	0.71101	0.0:0.9312:0.0:0.0688	.	2054;2073	Q15878-2;Q15878-3	.;.	C	2073;2054;2067;2005;1680;2097;2116	ENSP00000356542:R2073C;ENSP00000434814:R2054C;ENSP00000350183:R2067C;ENSP00000351101:R2005C;ENSP00000356539:R1680C;ENSP00000353222:R2097C;ENSP00000356545:R2116C	ENSP00000350183:R2067C	R	+	1	0	CACNA1E	180032564	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	3.305000	0.51873	1.506000	0.48736	-0.137000	0.14449	CGC		PASS	0.602	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		3	17	3	17	---	---	---	---
ZNF648	127665	broad.mit.edu	37	1	182026213	182026213	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:182026213G>C	ENST00000339948.3	-	2	1140	c.933C>G	c.(931-933)ttC>ttG	p.F311L		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	311					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.F311L(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCTTGTCGCAGAAGGAGCACT	0.667																																					NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(931-933)TTC>TTG		zinc finger protein 648							71.0	67.0	68.0					1																	182026213		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026213G>C	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.933C>G	1.37:g.182026213G>C	ENSP00000344129:p.Phe311Leu						p.F311L	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	1141	-			311			C2H2-type 2.		B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.933C>G	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	9.955	1.221276	0.22457	.	.	ENSG00000179930	ENST00000339948	T	0.05996	3.36	2.81	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.17248	0.465	0.39591	D	0.969581	B	0.12630	0.006	B	0.08055	0.003	T	0.33854	-0.9852	9	0.59425	D	0.04	.	5.7894	0.18351	0.1453:0.0:0.8547:0.0	.	311	Q5T619	ZN648_HUMAN	L	311	ENSP00000344129:F311L	ENSP00000344129:F311L	F	-	3	2	ZNF648	180292836	0.027000	0.19231	0.932000	0.37286	0.977000	0.68977	0.149000	0.16243	1.875000	0.54330	0.561000	0.74099	TTC		PASS	0.667	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		13	11	13	11	---	---	---	---
ARL8A	127829	broad.mit.edu	37	1	202107154	202107154	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:202107154C>A	ENST00000272217.2	-	3	385	c.217G>T	c.(217-219)Ggg>Tgg	p.G73W	ARL8A_ENST00000486225.1_5'UTR	NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	73					chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|mitotic nuclear division (GO:0007067)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G73W(1)		large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GGCTGTCCCCCAATGTCCCAG	0.607																																						uc001gxk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(217-219)GGG>TGG		ADP-ribosylation factor-like 8A							64.0	55.0	58.0					1																	202107154		2203	4300	6503	SO:0001583	missense	127829				cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity	g.chr1:202107154C>A	BC015408	CCDS1421.1, CCDS73004.1	1q32.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000143862	ENSG00000143862		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25192	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10B"""	ARL10B		8889548	Standard	NM_001256129		Approved	FLJ45195, Gie2	uc001gxk.2	Q96BM9	OTTHUMG00000035923	ENST00000272217.2:c.217G>T	1.37:g.202107154C>A	ENSP00000272217:p.Gly73Trp						p.G73W	NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN			3	383	-			73			GTP (By similarity).		B3KXD0	Missense_Mutation	SNP	ENST00000272217.2	37	c.217G>T	CCDS1421.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221063	0.79464	.	.	ENSG00000143862	ENST00000272217	D	0.84370	-1.84	4.55	3.57	0.40892	Small GTP-binding protein domain (1);	0.062439	0.64402	D	0.000006	D	0.95875	0.8657	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96835	0.9614	10	0.87932	D	0	-8.866	12.8988	0.58113	0.1635:0.8365:0.0:0.0	.	73	Q96BM9	ARL8A_HUMAN	W	73	ENSP00000272217:G73W	ENSP00000272217:G73W	G	-	1	0	ARL8A	200373777	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.933000	0.70130	2.069000	0.61940	0.467000	0.42956	GGG		PASS	0.607	ARL8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087493.1	NM_138795		4	42	4	42	---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229667455	229667455	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:229667455G>T	ENST00000344517.4	-	7	1405	c.1363C>A	c.(1363-1365)Ctg>Atg	p.L455M		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	455	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L455M(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCTTTCATCAGCTCCGAGTAG	0.552																																						uc001htp.3																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1363-1365)CTG>ATG		ATP-binding cassette, sub-family B, member 10							59.0	65.0	63.0					1																	229667455		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229667455G>T	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1363C>A	1.37:g.229667455G>T	ENSP00000355637:p.Leu455Met						p.L455M	NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN			7	1406	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	455			Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.|Mitochondrial matrix (Potential).		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.1363C>A	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138155	0.77775	.	.	ENSG00000135776	ENST00000344517	D	0.82803	-1.65	5.96	1.92	0.25849	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.065277	0.64402	N	0.000006	T	0.82070	0.4957	M	0.62209	1.925	0.51482	D	0.999926	P	0.39520	0.676	P	0.47075	0.536	T	0.77653	-0.2507	10	0.48119	T	0.1	-11.8031	7.0193	0.24904	0.2482:0.0:0.641:0.1108	.	455	Q9NRK6	ABCBA_HUMAN	M	455	ENSP00000355637:L455M	ENSP00000355637:L455M	L	-	1	2	ABCB10	227734078	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.035000	0.49759	0.393000	0.25203	0.650000	0.86243	CTG		PASS	0.552	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		7	72	7	72	---	---	---	---
GALNT2	2590	broad.mit.edu	37	1	230401027	230401027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:230401027C>T	ENST00000366672.4	+	14	1426	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Nonsense_Mutation_p.Q414*|GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000485438.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	452	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Q452*(1)|p.Q452E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGCCTTGCAGCAGGGAACTAA	0.517																																						uc010pwa.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(2)	2						c.(1354-1356)CAG>TAG		polypeptide N-acetylgalactosaminyltransferase 2							292.0	259.0	270.0					1																	230401027		2203	4300	6503	SO:0001587	stop_gained	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230401027C>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1354C>T	1.37:g.230401027C>T	ENSP00000355632:p.Gln452*					GALNT2_uc010pvy.1_Nonsense_Mutation_p.Q414*|GALNT2_uc010pvz.1_RNA|GALNT2_uc001htu.2_Nonsense_Mutation_p.Q64*	p.Q452*	NM_004481	NP_004472	Q10471	GALT2_HUMAN			14	1426	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	452			Lumenal (Potential).|Ricin B-type lectin.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Nonsense_Mutation	SNP	ENST00000366672.4	37	c.1354C>T	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	C	40	8.349302	0.98772	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	.	.	.	5.34	5.34	0.76211	.	1.075040	0.07046	N	0.831051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.0469	0.93025	0.0:1.0:0.0:0.0	.	.	.	.	X	414;452;333	.	ENSP00000355632:Q452X	Q	+	1	0	GALNT2	228467650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.802000	0.85969	2.497000	0.84241	0.561000	0.74099	CAG		PASS	0.517	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		71	96	71	96	---	---	---	---
COG2	22796	broad.mit.edu	37	1	230810750	230810750	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:230810750A>T	ENST00000366669.4	+	9	1021	c.906A>T	c.(904-906)aaA>aaT	p.K302N	COG2_ENST00000534989.1_Missense_Mutation_p.K243N|COG2_ENST00000535166.1_Missense_Mutation_p.K186N|COG2_ENST00000366668.3_Missense_Mutation_p.K302N	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	302					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.K302N(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ACAGTGAAAAAGGCAATACTG	0.368																																						uc001htw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(904-906)AAA>AAT		component of oligomeric golgi complex 2 isoform							123.0	131.0	128.0					1																	230810750		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230810750A>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.906A>T	1.37:g.230810750A>T	ENSP00000355629:p.Lys302Asn					COG2_uc001htx.2_Missense_Mutation_p.K302N|COG2_uc010pwc.1_Missense_Mutation_p.K175N	p.K302N	NM_007357	NP_031383	Q14746	COG2_HUMAN			9	1057	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	302					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.906A>T	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562839	0.45694	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.92	-2.02	0.07388	.	0.219508	0.53938	N	0.000048	T	0.19167	0.0460	L	0.52573	1.65	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.11329	0.006;0.004	T	0.08932	-1.0698	10	0.22109	T	0.4	-19.1493	3.6296	0.08126	0.3851:0.1167:0.3854:0.1128	.	302;302	Q86U99;Q14746	.;COG2_HUMAN	N	302;186;302;243	ENSP00000355629:K302N;ENSP00000445724:K186N;ENSP00000355628:K302N;ENSP00000440349:K243N	ENSP00000355628:K302N	K	+	3	2	COG2	228877373	1.000000	0.71417	0.843000	0.33291	0.978000	0.69477	1.634000	0.37123	-0.647000	0.05444	-0.290000	0.09829	AAA		PASS	0.368	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		46	57	46	57	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240255883	240255883	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:240255883G>A	ENST00000319653.9	+	1	704	c.474G>A	c.(472-474)ccG>ccA	p.P158P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	158					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P301P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGCCGGCCGATCGCCGAGG	0.667																																						uc010pyd.1																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(472-474)CCG>CCA		formin 2							31.0	36.0	34.0					1																	240255883		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255883G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.474G>A	1.37:g.240255883G>A						FMN2_uc010pye.1_Silent_p.P158P	p.P158P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	699	+	Ovarian(103;0.127)	all_cancers(173;0.013)	158					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.474G>A	CCDS31069.2																																																																																				PASS	0.667	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	10	6	10	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343731	248343731	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr1:248343731C>T	ENST00000359682.2	+	1	444	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S148S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTACCTTCTCCTGGATCCTGG	0.438																																						uc010pzf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(442-444)TCC>TCT		olfactory receptor, family 2, subfamily M,							177.0	185.0	182.0					1																	248343731		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343731C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.444C>T	1.37:g.248343731C>T							p.S148S	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	444	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		148			Helical; Name=4; (Potential).		A3KFT4	Silent	SNP	ENST00000359682.2	37	c.444C>T	CCDS31106.1																																																																																				PASS	0.438	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		9	232	9	232	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1926282	1926282	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:1926282G>C	ENST00000399161.2	-	10	2006	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	MYT1L_ENST00000428368.2_Missense_Mutation_p.S420C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	420					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)	p.S420C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CACCTCTTCAGACCTGTCCGA	0.572																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(1258-1260)TCT>TGT		myelin transcription factor 1-like							95.0	95.0	95.0					2																	1926282		2116	4227	6343	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926282G>C	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1259C>G	2.37:g.1926282G>C	ENSP00000382114:p.Ser420Cys					MYT1L_uc002qxd.2_Missense_Mutation_p.S420C|MYT1L_uc010ewl.1_RNA	p.S420C	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	2086	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	420					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1259C>G		.	.	.	.	.	.	.	.	.	.	G	16.94	3.260923	0.59431	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.55930	0.51;0.49	5.97	5.97	0.96955	.	0.103999	0.64402	D	0.000002	T	0.66228	0.2768	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.66705	-0.5856	10	0.72032	D	0.01	-22.3097	20.4387	0.99107	0.0:0.0:1.0:0.0	.	420;420	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	C	420;368;420	ENSP00000382114:S420C;ENSP00000396103:S420C	ENSP00000295067:S368C	S	-	2	0	MYT1L	1905289	1.000000	0.71417	0.972000	0.41901	0.057000	0.15508	9.781000	0.99029	2.836000	0.97738	0.655000	0.94253	TCT		PASS	0.572	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		19	34	19	34	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20511297	20511297	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:20511297C>G	ENST00000361078.2	-	4	498	c.476G>C	c.(475-477)aGa>aCa	p.R159T	PUM2_ENST00000536417.1_Missense_Mutation_p.R103T|PUM2_ENST00000319801.5_Missense_Mutation_p.R159T|PUM2_ENST00000403432.1_Missense_Mutation_p.R159T|PUM2_ENST00000338086.5_Missense_Mutation_p.R159T|PUM2_ENST00000420234.1_Intron			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	159	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.R159T(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCAAACCTCTGCCATTTAT	0.353																																						uc002rds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(475-477)AGA>ACA		pumilio homolog 2							137.0	129.0	132.0					2																	20511297		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20511297C>G	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.476G>C	2.37:g.20511297C>G	ENSP00000354370:p.Arg159Thr					PUM2_uc002rdt.1_Missense_Mutation_p.R159T|PUM2_uc002rdr.2_Missense_Mutation_p.R98T|PUM2_uc010yjy.1_Missense_Mutation_p.R159T|PUM2_uc002rdu.1_Missense_Mutation_p.R159T|PUM2_uc010yjz.1_Missense_Mutation_p.R98T	p.R159T	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			4	499	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		159			Interaction with SNAPIN.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.476G>C		.	.	.	.	.	.	.	.	.	.	C	17.49	3.403770	0.62288	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.18502	2.28;2.55;2.53;2.21;2.28;2.28	5.98	4.13	0.48395	.	0.038264	0.85682	D	0.000000	T	0.19208	0.0461	L	0.47716	1.5	0.58432	D	0.999999	P;B;P	0.38020	0.615;0.0;0.486	B;B;B	0.40741	0.248;0.001;0.339	T	0.01360	-1.1375	10	0.37606	T	0.19	-9.5805	13.0973	0.59200	0.1287:0.7478:0.1235:0.0	.	103;159;159	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	T	159;159;159;50;159;103;159	ENSP00000338173:R159T;ENSP00000354370:R159T;ENSP00000326746:R159T;ENSP00000409905:R50T;ENSP00000385992:R159T;ENSP00000440093:R103T	ENSP00000326746:R159T	R	-	2	0	PUM2	20374778	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.878000	0.69682	0.811000	0.34303	0.655000	0.94253	AGA		PASS	0.353	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		27	48	27	48	---	---	---	---
CAD	790	broad.mit.edu	37	2	27456574	27456574	+	Silent	SNP	T	T	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:27456574T>C	ENST00000403525.1	+	20	3252	c.3108T>C	c.(3106-3108)aaT>aaC	p.N1036N	CAD_ENST00000264705.4_Silent_p.N1099N			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.N1099N(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTATGAATGTGGCCTACA	0.602																																						uc002rji.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(3295-3297)AAT>AAC		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						72.0	74.0	74.0					2																	27456574		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456574T>C	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3108T>C	2.37:g.27456574T>C						CAD_uc010eyw.2_Silent_p.N1036N	p.N1099N	NM_004341	NP_004332	P27708	PYR1_HUMAN			21	3459	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1099			CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.3297T>C																																																																																					PASS	0.602	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			24	31	24	31	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29295660	29295660	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:29295660C>T	ENST00000331664.5	-	1	1467	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	490					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.E490K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCCTCCTCCTCTGGGCTGCTG	0.527																																						uc002rmt.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1468-1470)GAG>AAG		hypothetical protein LOC388939							83.0	86.0	85.0					2																	29295660		2110	4228	6338	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295660C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1468G>A	2.37:g.29295660C>T	ENSP00000332809:p.Glu490Lys						p.E490K	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	1468	-			490						Missense_Mutation	SNP	ENST00000331664.5	37	c.1468G>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659609	0.29515	.	.	ENSG00000179270	ENST00000331664	T	0.21932	1.98	5.3	4.43	0.53597	.	0.646533	0.16648	N	0.205339	T	0.18593	0.0446	L	0.59436	1.845	0.26794	N	0.969338	P	0.34724	0.465	B	0.32583	0.148	T	0.13150	-1.0520	10	0.09843	T	0.71	.	10.252	0.43375	0.0:0.8486:0.0:0.1514	.	490	A6NGG8	CB071_HUMAN	K	490	ENSP00000332809:E490K	ENSP00000332809:E490K	E	-	1	0	C2orf71	29149164	0.999000	0.42202	0.943000	0.38184	0.615000	0.37417	4.647000	0.61418	1.233000	0.43693	0.561000	0.74099	GAG		PASS	0.527	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		52	70	52	70	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32475940	32475940	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:32475940C>G	ENST00000404025.2	-	5	1481	c.993G>C	c.(991-993)ttG>ttC	p.L331F	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.L331F|NLRC4_ENST00000402280.1_Missense_Mutation_p.L331F			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	331	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.L331F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAGATTCCTCAAGCACCTGG	0.488																																						uc002roi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(991-993)TTG>TTC		caspase recruitment domain protein 12							71.0	66.0	67.0					2																	32475940		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475940C>G	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.993G>C	2.37:g.32475940C>G	ENSP00000385090:p.Leu331Phe					NLRC4_uc002roj.1_Missense_Mutation_p.L331F|NLRC4_uc010ezt.1_Intron	p.L331F	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	1239	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		331			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.993G>C	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166788	0.38217	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.12361	2.69;2.69;2.69	3.26	3.26	0.37387	.	0.161726	0.26499	N	0.024031	T	0.21631	0.0521	L	0.46157	1.445	0.33868	D	0.634632	D	0.62365	0.991	P	0.58013	0.831	T	0.20140	-1.0284	9	0.59425	D	0.04	-6.9817	8.5312	0.33335	0.0:0.8806:0.0:0.1194	.	331	Q9NPP4	NLRC4_HUMAN	F	331	ENSP00000354159:L331F;ENSP00000385428:L331F;ENSP00000385090:L331F	ENSP00000354159:L331F	L	-	3	2	NLRC4	32329444	0.990000	0.36364	0.868000	0.34077	0.532000	0.34746	2.667000	0.46808	1.831000	0.53308	0.536000	0.68110	TTG		PASS	0.488	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		22	24	22	24	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109086935	109086935	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:109086935G>C	ENST00000309863.6	+	6	1864	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	384					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.E384Q(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GGAAGACTTAGAGTTTAAAAT	0.284																																						uc002tec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1150-1152)GAG>CAG		GRIP and coiled-coil domain-containing 2							50.0	56.0	54.0					2																	109086935		2069	4242	6311	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086935G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1150G>C	2.37:g.109086935G>C	ENSP00000307939:p.Glu384Gln					GCC2_uc002ted.2_Missense_Mutation_p.E283Q	p.E384Q	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	1304	+			384			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.1150G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624204	0.66901	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409896;ENST00000393318	T	0.44881	0.91	5.93	5.93	0.95920	.	0.062472	0.64402	D	0.000007	T	0.45034	0.1322	N	0.19112	0.55	0.51482	D	0.999923	D	0.63880	0.993	P	0.55713	0.782	T	0.14924	-1.0455	10	0.22706	T	0.39	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	384	Q8IWJ2	GCC2_HUMAN	Q	384;384;347;129	ENSP00000307939:E384Q	ENSP00000307939:E384Q	E	+	1	0	GCC2	108453367	1.000000	0.71417	0.974000	0.42286	0.660000	0.38997	8.358000	0.90090	2.805000	0.96524	0.655000	0.94253	GAG		PASS	0.284	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		23	57	23	57	---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162865769	162865769	+	Silent	SNP	T	T	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:162865769T>C	ENST00000360534.3	-	21	2429	c.1869A>G	c.(1867-1869)cgA>cgG	p.R623R	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	623					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R623R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AAATTGCAATTCGTTTGTTGT	0.363																																						uc002ubz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1867-1869)CGA>CGG		dipeptidylpeptidase IV	Sitagliptin(DB01261)						157.0	146.0	150.0					2																	162865769		2203	4300	6503	SO:0001819	synonymous_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865769T>C	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1869A>G	2.37:g.162865769T>C						DPP4_uc010fpb.2_Silent_p.R299R	p.R623R	NM_001935	NP_001926	P27487	DPP4_HUMAN			21	2430	-			623			Extracellular (Potential).		Q53TN1	Silent	SNP	ENST00000360534.3	37	c.1869A>G	CCDS2216.1																																																																																				PASS	0.363	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			35	4	35	4	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:178098944C>T	ENST00000397062.3	-	2	655	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34Q(10)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		12	Substitution - Missense(12)		lung(12)	central_nervous_system(1)	1						c.(100-102)CGA>CAA		nuclear factor erythroid 2-like 2 isoform 1							77.0	70.0	72.0					2																	178098944		1847	4100	5947	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098944C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.101G>A	2.37:g.178098944C>T	ENSP00000380252:p.Arg34Gln	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.R18Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18Q|NFE2L2_uc002uli.3_Missense_Mutation_p.R18Q|NFE2L2_uc010fra.2_Missense_Mutation_p.R18Q|NFE2L2_uc010frb.2_Missense_Mutation_p.R18Q	p.R34Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	656	-			34					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.101G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869837	0.91587	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.992;0.997;0.998	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	18;34;18;18;18;18;18	ENSP00000380253:R18Q;ENSP00000380252:R34Q;ENSP00000411575:R18Q;ENSP00000391590:R18Q;ENSP00000400073:R18Q;ENSP00000412191:R18Q;ENSP00000410015:R18Q	ENSP00000380252:R34Q	R	-	2	0	NFE2L2	177807190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	CGA		PASS	0.373	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		27	4	27	4	---	---	---	---
TTC30B	150737	broad.mit.edu	37	2	178417117	178417117	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:178417117G>T	ENST00000408939.3	-	1	625	c.375C>A	c.(373-375)agC>agA	p.S125R		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	125					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.S125R(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GATCGCCCTCGCTGTACTTGA	0.632																																						uc002uln.2																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)AGC>AGA		tetratricopeptide repeat domain 30B							108.0	121.0	117.0					2																	178417117		2202	4299	6501	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178417117G>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.375C>A	2.37:g.178417117G>T	ENSP00000386181:p.Ser125Arg					TTC30B_uc010zfc.1_5'UTR	p.S125R	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	408	-			125					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.375C>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	3.934	-0.015544	0.07681	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.77358	-1.09	4.3	-4.53	0.03462	.	0.179890	0.64402	D	0.000016	T	0.49592	0.1566	N	0.08118	0	0.29488	N	0.855876	B	0.10296	0.003	B	0.09377	0.004	T	0.35301	-0.9794	10	0.21014	T	0.42	.	9.2828	0.37737	0.5333:0.1049:0.3617:0.0	.	125	Q8N4P2	TT30B_HUMAN	R	78;125	ENSP00000386181:S125R	ENSP00000386181:S125R	S	-	3	2	TTC30B	178125363	0.012000	0.17670	0.920000	0.36463	0.917000	0.54804	-1.784000	0.01769	-0.993000	0.03467	-0.940000	0.02684	AGC		PASS	0.632	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		104	28	104	28	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179395596	179395596	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:179395596G>C	ENST00000591111.1	-	308	101047	c.100823C>G	c.(100822-100824)tCt>tGt	p.S33608C	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26309C|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26184C|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S35249C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26376C|TTN_ENST00000342992.6_Missense_Mutation_p.S32681C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33608					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S32681C(1)|p.S26184C(1)|p.S26309C(1)|p.S32679C(1)|p.S26376C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCGTTTTGGAGACTTAACTGC	0.493																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(98041-98043)TCT>TGT		titin isoform N2-A							130.0	127.0	128.0					2																	179395596		1876	4102	5978	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395596G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100823C>G	2.37:g.179395596G>C	ENSP00000465570:p.Ser33608Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S26376C|TTN_uc010zfi.1_Missense_Mutation_p.S26309C|TTN_uc010zfj.1_Missense_Mutation_p.S26184C|TTN_uc002umq.2_5'Flank	p.S32681C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	98266	-			33608					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.98042C>G		.	.	.	.	.	.	.	.	.	.	G	16.77	3.215315	0.58452	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69435	-0.4;-0.03;-0.06;-0.06	4.99	4.99	0.66335	Ribonuclease H-like (1);	.	.	.	.	T	0.67297	0.2878	L	0.32530	0.975	0.49915	D	0.999833	D;D;D;D	0.56287	0.975;0.975;0.975;0.975	P;P;P;P	0.50659	0.522;0.522;0.522;0.647	T	0.72600	-0.4244	9	0.87932	D	0	.	18.2867	0.90117	0.0:0.0:1.0:0.0	.	26184;26309;26376;33608	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	32681;26184;26376;26309;26181	ENSP00000343764:S32681C;ENSP00000434586:S26184C;ENSP00000340554:S26376C;ENSP00000352154:S26309C	ENSP00000340554:S26376C	S	-	2	0	TTN	179103842	1.000000	0.71417	0.999000	0.59377	0.549000	0.35272	7.025000	0.76449	2.321000	0.78463	0.455000	0.32223	TCT		PASS	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	65	7	65	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179605171	179605171	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:179605171C>T	ENST00000591111.1	-	46	12062	c.11838G>A	c.(11836-11838)ttG>ttA	p.L3946L	TTN_ENST00000359218.5_Silent_p.L4025L|TTN_ENST00000460472.2_Silent_p.L3900L|TTN_ENST00000589042.1_Silent_p.L4263L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Silent_p.L4092L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L4025L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCTGACTCAAGATGAGCG	0.468																																						uc010zfh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12274-12276)TTG>TTA		titin isoform novex-2							99.0	92.0	94.0					2																	179605171		1953	4146	6099	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605171C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11838G>A	2.37:g.179605171C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.L4025L|TTN_uc010zfj.1_Silent_p.L3900L|TTN_uc002umz.1_Intron	p.L4092L	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12500	-			4017					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.12276G>A																																																																																					PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	7	19	7	---	---	---	---
FSIP2	401024	broad.mit.edu	37	2	186678693	186678693	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr2:186678693C>G	ENST00000424728.1	+	18	20249	c.20249C>G	c.(20248-20250)gCt>gGt	p.A6750G	FSIP2_ENST00000343098.5_Missense_Mutation_p.A6839G			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6750								p.A1448G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGCTGTTGCTGAGCTTGAC	0.433																																						uc002upm.2																			2	Substitution - Missense(2)		lung(2)										Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.							70.0	67.0	68.0					2																	186678693		1980	4148	6128	SO:0001583	missense	0							g.chr2:186678693C>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.20249C>G	2.37:g.186678693C>G	ENSP00000401306:p.Ala6750Gly					uc010zfu.1_Missense_Mutation_p.A1248G								2		+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	RNA	SNP	ENST00000424728.1	37	c.3331C>G		.	.	.	.	.	.	.	.	.	.	C	16.39	3.110983	0.56398	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.51071	0.72;0.73	5.13	1.06	0.20224	.	0.955112	0.08650	N	0.914149	T	0.39253	0.1071	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.38090	-0.9677	8	0.48119	T	0.1	.	8.1347	0.31048	0.0:0.4462:0.4654:0.0884	.	.	.	.	G	6839;6750	ENSP00000344403:A6839G;ENSP00000401306:A6750G	ENSP00000344403:A6839G	A	+	2	0	FSIP2	186386938	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.797000	0.26999	0.080000	0.16959	0.655000	0.94253	GCT		PASS	0.433	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		10	54	10	54	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	6903173	6903173	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr3:6903173G>A	ENST00000357716.4	+	1	372	c.98G>A	c.(97-99)cGc>cAc	p.R33H	GRM7_ENST00000389336.4_Missense_Mutation_p.R33H|GRM7_ENST00000402647.2_Missense_Mutation_p.R33H|GRM7_ENST00000403881.1_Missense_Mutation_p.R33H|GRM7_ENST00000486284.1_Missense_Mutation_p.R33H	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	33					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.R33H(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GCGGCGGCGCGCGGCCAGGAG	0.692																																						uc003bqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)	7						c.(97-99)CGC>CAC		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						9.0	9.0	9.0					3																	6903173		2118	4167	6285	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903173G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.98G>A	3.37:g.6903173G>A	ENSP00000350348:p.Arg33His					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R33H|GRM7_uc003bql.2_Missense_Mutation_p.R33H	p.R33H	NM_000844	NP_000835	Q14831	GRM7_HUMAN			1	372	+			33					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.98G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	3.232	-0.157146	0.06544	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.89415	-2.47;-2.51;-2.51;-2.51;-2.51	5.23	1.98	0.26296	.	0.420263	0.21050	N	0.081012	T	0.70404	0.3220	N	0.01352	-0.895	0.28094	N	0.931708	B;B;D	0.64830	0.001;0.0;0.994	B;B;P	0.51415	0.0;0.0;0.669	T	0.66300	-0.5958	10	0.16420	T	0.52	.	1.0944	0.01670	0.2192:0.3258:0.2877:0.1673	.	33;33;33	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	H	33	ENSP00000350348:R33H;ENSP00000417536:R33H;ENSP00000373987:R33H;ENSP00000385664:R33H;ENSP00000384585:R33H	ENSP00000350348:R33H	R	+	2	0	GRM7	6878173	0.709000	0.27886	1.000000	0.80357	0.239000	0.25481	0.784000	0.26816	0.575000	0.29434	-0.312000	0.09012	CGC		PASS	0.692	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	0	4	0	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9101963	9101963	+	Missense_Mutation	SNP	G	G	C	rs143061036	byFrequency	TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr3:9101963G>C	ENST00000383836.3	-	6	1180	c.753C>G	c.(751-753)aaC>aaG	p.N251K	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.N251K	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	251	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.N251K(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTATAGCTGCGTTGGTGGCTG	0.522			T	RAF1	pilocytic astrocytoma																																	uc003brf.1				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(751-753)AAC>AAG		SLIT-ROBO Rho GTPase activating protein 3							226.0	195.0	206.0					3																	9101963		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9101963G>C	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.753C>G	3.37:g.9101963G>C	ENSP00000373347:p.Asn251Lys					SRGAP3_uc003brg.1_Missense_Mutation_p.N251K|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brk.2_Missense_Mutation_p.N251K|SRGAP3_uc003brj.1_Missense_Mutation_p.N111K	p.N251K	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	6	1429	-			251					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.753C>G	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906440	0.72868	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.21543	2.0;2.0	5.27	-1.75	0.08031	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.90198	3.095	0.54753	D	0.999987	D;P;D;D	0.76494	0.999;0.493;0.991;0.985	D;B;P;P	0.79108	0.992;0.138;0.839;0.694	T	0.54814	-0.8237	10	0.72032	D	0.01	.	11.2227	0.48864	0.6455:0.0:0.3545:0.0	.	251;120;251;251	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	K	251;251;131	ENSP00000373347:N251K;ENSP00000353587:N251K	ENSP00000353587:N251K	N	-	3	2	SRGAP3	9076963	0.026000	0.19158	0.993000	0.49108	0.985000	0.73830	-0.601000	0.05687	-0.227000	0.09884	-0.691000	0.03719	AAC		PASS	0.522	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			35	14	35	14	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48627135	48627135	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr3:48627135C>T	ENST00000328333.8	-	16	2174	c.2067G>A	c.(2065-2067)gtG>gtA	p.V689V	COL7A1_ENST00000454817.1_Silent_p.V689V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	689	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V689V(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACCGTCCTCACTGGGCCCA	0.592																																						uc003ctz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(2065-2067)GTG>GTA		alpha 1 type VII collagen precursor							81.0	82.0	82.0					3																	48627135		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48627135C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2067G>A	3.37:g.48627135C>T							p.V689V	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	16	2068	-			689			Nonhelical region (NC1).|Fibronectin type-III 6.		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.2067G>A	CCDS2773.1																																																																																				PASS	0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		26	5	26	5	---	---	---	---
PCCB	5096	broad.mit.edu	37	3	136019916	136019916	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr3:136019916C>T	ENST00000251654.4	+	9	999	c.929C>T	c.(928-930)tCa>tTa	p.S310L	PCCB_ENST00000471595.1_Missense_Mutation_p.S310L|PCCB_ENST00000462637.1_Missense_Mutation_p.S287L|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000482086.1_Missense_Mutation_p.S194L|PCCB_ENST00000468777.1_Missense_Mutation_p.S341L|PCCB_ENST00000483687.1_Missense_Mutation_p.S291L|PCCB_ENST00000469217.1_Missense_Mutation_p.S330L|PCCB_ENST00000466072.1_Missense_Mutation_p.S310L|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000490504.1_Missense_Mutation_p.S253L	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	310	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.S310L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CCTTTGGAATCAACCAAAGCC	0.458																																						uc003eqy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(928-930)TCA>TTA		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						227.0	192.0	204.0					3																	136019916		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136019916C>T		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.929C>T	3.37:g.136019916C>T	ENSP00000251654:p.Ser310Leu					PCCB_uc003eqz.1_Missense_Mutation_p.S310L|PCCB_uc011bmc.1_Missense_Mutation_p.S330L|PCCB_uc011bmd.1_Missense_Mutation_p.S227L	p.S310L	NM_000532	NP_000523	P05166	PCCB_HUMAN			9	980	+			310			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.929C>T	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436167	0.83885	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217	D;D;D;D;D;T;D;D;D	0.97598	-3.59;-3.59;-3.59;-3.59;-3.59;1.54;-3.59;-4.45;-3.59	5.17	5.17	0.71159	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.229750	0.46145	D	0.000314	D	0.96266	0.8782	L	0.35644	1.08	0.80722	D	1	P;P;P;P	0.38473	0.633;0.481;0.633;0.481	P;B;B;B	0.46850	0.529;0.41;0.41;0.41	D	0.96980	0.9714	10	0.87932	D	0	.	18.2903	0.90127	0.0:1.0:0.0:0.0	.	227;330;310;310	B7Z7U9;B7Z2Z4;E9PDR0;P05166	.;.;.;PCCB_HUMAN	L	310;253;291;341;287;310;194;310;330	ENSP00000251654:S310L;ENSP00000418307:S253L;ENSP00000420639:S291L;ENSP00000419129:S341L;ENSP00000420391:S287L;ENSP00000420158:S310L;ENSP00000417253:S194L;ENSP00000417549:S310L;ENSP00000419027:S330L	ENSP00000251654:S310L	S	+	2	0	PCCB	137502606	1.000000	0.71417	0.947000	0.38551	0.967000	0.64934	5.213000	0.65230	2.402000	0.81655	0.655000	0.94253	TCA		PASS	0.458	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			16	54	16	54	---	---	---	---
RSRC1	51319	broad.mit.edu	37	3	157839907	157839907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr3:157839907C>A	ENST00000295930.3	+	2	176	c.14C>A	c.(13-15)tCa>tAa	p.S5*	RSRC1_ENST00000475278.2_Nonsense_Mutation_p.S5*|RSRC1_ENST00000464171.1_Nonsense_Mutation_p.S5*|RSRC1_ENST00000480820.1_Nonsense_Mutation_p.S5*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.S5*	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	5	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.S5*(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GGACGTCGGTCATCAGATACT	0.353																																						uc003fbt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(13-15)TCA>TAA		arginine/serine-rich coiled-coil 1							64.0	70.0	68.0					3																	157839907		2203	4300	6503	SO:0001587	stop_gained	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157839907C>A	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.14C>A	3.37:g.157839907C>A	ENSP00000295930:p.Ser5*					RSRC1_uc011bou.1_Nonsense_Mutation_p.S5*|RSRC1_uc003fbu.1_Nonsense_Mutation_p.S5*|RSRC1_uc003fbv.2_Nonsense_Mutation_p.S5*	p.S5*	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		2	125	+			5			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Nonsense_Mutation	SNP	ENST00000295930.3	37	c.14C>A	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344107	0.95807	.	.	ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899	.	.	.	5.66	5.66	0.87406	.	0.188376	0.47455	D	0.000235	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3485	0.94374	0.0:1.0:0.0:0.0	.	.	.	.	X	5	.	ENSP00000295930:S5X	S	+	2	0	RSRC1	159322601	1.000000	0.71417	0.996000	0.52242	0.110000	0.19582	5.253000	0.65452	2.673000	0.90976	0.650000	0.86243	TCA		PASS	0.353	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		20	18	20	18	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170824507	170824507	+	Intron	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr3:170824507G>C	ENST00000436636.2	-	21	2751				MIR569_ENST00000385228.1_RNA|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000284483.8_Intron|TNIK_ENST00000369326.5_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000460047.1_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase						actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGTTGCTTCTGATGCTGTTGT	0.348																																						hsa-mir-569|MI0003576																			0					0															197.0	177.0	183.0					3																	170824507		1568	3582	5150	SO:0001627	intron_variant	693154							g.chr3:170824507G>C	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2406+464C>G	3.37:g.170824507G>C						TNIK_uc003fhh.2_Intron|TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Intron|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron										-								A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	RNA	SNP	ENST00000436636.2	37	c.42G>C	CCDS46956.1																																																																																				PASS	0.348	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		50	48	50	48	---	---	---	---
TBL1XR1	79718	broad.mit.edu	37	3	176769461	176769461	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr3:176769461G>A	ENST00000430069.1	-	5	517	c.258C>T	c.(256-258)gcC>gcT	p.A86A	TBL1XR1_ENST00000457928.2_Silent_p.A86A			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	86	F-box-like.				canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A86A(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CAGGCATTACGGCATCTATCA	0.458																																						uc003fiw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(256-258)GCC>GCT		transducin (beta)-like 1 X-linked receptor 1							58.0	51.0	53.0					3																	176769461		1881	4111	5992	SO:0001819	synonymous_variant	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176769461G>A	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.258C>T	3.37:g.176769461G>A						TBL1XR1_uc003fix.3_Silent_p.A86A|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Silent_p.A86A	p.A86A	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		5	518	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	86			F-box-like.		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Silent	SNP	ENST00000430069.1	37	c.258C>T	CCDS46961.1																																																																																				PASS	0.458	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		28	24	28	24	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179537757	179537757	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr3:179537757G>A	ENST00000467460.1	-	9	1160	c.830C>T	c.(829-831)aCa>aTa	p.T277I	PEX5L_ENST00000468741.1_Missense_Mutation_p.T85I|PEX5L_ENST00000392649.3_Missense_Mutation_p.T169I|PEX5L_ENST00000476138.1_Missense_Mutation_p.T234I|PEX5L_ENST00000485199.1_Missense_Mutation_p.T242I|PEX5L_ENST00000263962.8_Missense_Mutation_p.T275I|PEX5L_ENST00000464614.1_Missense_Mutation_p.T169I|PEX5L_ENST00000465751.1_Missense_Mutation_p.T253I|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000472994.1_Missense_Mutation_p.T218I	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	277					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.T277I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCAAAACTCTGTATCTGACTG	0.438																																						uc003fki.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(829-831)ACA>ATA		peroxisomal biogenesis factor 5-like							173.0	158.0	163.0					3																	179537757		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179537757G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.830C>T	3.37:g.179537757G>A	ENSP00000419975:p.Thr277Ile					PEX5L_uc011bqd.1_Missense_Mutation_p.T234I|PEX5L_uc011bqe.1_Missense_Mutation_p.T85I|PEX5L_uc011bqf.1_Missense_Mutation_p.T169I|PEX5L_uc003fkj.1_Missense_Mutation_p.T242I|PEX5L_uc010hxd.1_Missense_Mutation_p.T275I|PEX5L_uc011bqg.1_Missense_Mutation_p.T253I|PEX5L_uc011bqh.1_Missense_Mutation_p.T218I	p.T277I	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		9	960	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		277					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.830C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584813	0.86748	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.36;-2.31;-2.31;-2.36;-2.37;-2.31;-2.37	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.92916	0.7746	L	0.46157	1.445	0.80722	D	1	D;D;P;D;D;D	0.89917	0.998;0.998;0.613;1.0;0.999;0.999	D;D;B;D;D;D	0.87578	0.987;0.987;0.186;0.998;0.997;0.996	D	0.92649	0.6131	10	0.54805	T	0.06	-20.0138	19.4703	0.94961	0.0:0.0:1.0:0.0	.	218;253;169;275;242;277	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	I	277;275;242;275;169;85;234;165;218;169;253	ENSP00000419975:T277I;ENSP00000263962:T275I;ENSP00000418440:T242I;ENSP00000376420:T169I;ENSP00000418665:T85I;ENSP00000420555:T234I;ENSP00000418054:T218I;ENSP00000417270:T169I;ENSP00000419348:T253I	ENSP00000263962:T275I	T	-	2	0	PEX5L	181020451	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.080000	0.94040	2.711000	0.92665	0.655000	0.94253	ACA		PASS	0.438	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		80	300	80	300	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46043256	46043256	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr4:46043256G>T	ENST00000295452.4	-	9	1314	c.1147C>A	c.(1147-1149)Cat>Aat	p.H383N		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	383					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.H383N(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GATCCAGGATGGAGACCAGGA	0.388																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1147-1149)CAT>AAT		gamma-aminobutyric acid A receptor, gamma 1							53.0	55.0	54.0					4																	46043256		2203	4298	6501	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043256G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1147C>A	4.37:g.46043256G>T	ENSP00000295452:p.His383Asn						p.H383N	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1299	-			383			Cytoplasmic (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1147C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232440	0.22626	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.83075	-1.68	4.7	4.7	0.59300	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.195236	0.43110	D	0.000612	T	0.77745	0.4176	L	0.34521	1.04	0.34876	D	0.744112	B	0.22851	0.076	B	0.32022	0.139	T	0.77517	-0.2558	10	0.23302	T	0.38	.	16.7998	0.85611	0.0:0.0:1.0:0.0	.	383	Q8N1C3	GBRG1_HUMAN	N	383	ENSP00000295452:H383N	ENSP00000295452:H383N	H	-	1	0	GABRG1	45738013	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	5.039000	0.64185	2.436000	0.82500	0.585000	0.79938	CAT		PASS	0.388	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		18	19	18	19	---	---	---	---
SGCB	6443	broad.mit.edu	37	4	52890291	52890291	+	Silent	SNP	G	G	C	rs371225165		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr4:52890291G>C	ENST00000381431.5	-	6	1011	c.789C>G	c.(787-789)gtC>gtG	p.V263V	SGCB_ENST00000535450.1_Silent_p.V193V	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	263	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.V263V(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GGGTGGTGCTGACCATCACAG	0.468																																						uc003gzj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(787-789)GTC>GTG		sarcoglycan, beta							95.0	88.0	90.0					4																	52890291		2203	4300	6503	SO:0001819	synonymous_variant	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52890291G>C	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.789C>G	4.37:g.52890291G>C						SGCB_uc011bzp.1_Silent_p.V193V	p.V263V	NM_000232	NP_000223	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		6	849	-			263			Extracellular (Potential).|Cys-rich.		B7Z635|O00661	Silent	SNP	ENST00000381431.5	37	c.789C>G	CCDS3488.1																																																																																				PASS	0.468	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2			18	23	18	23	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55974034	55974034	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr4:55974034G>C	ENST00000263923.4	-	10	1577	c.1282C>G	c.(1282-1284)Cta>Gta	p.L428V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	428	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L428V(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGAGAGATTAGAGATTTCTCA	0.458			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1282-1284)CTA>GTA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						171.0	150.0	157.0					4																	55974034		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55974034G>C	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1282C>G	4.37:g.55974034G>C	ENSP00000263923:p.Leu428Val	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.L428V|KDR_uc011bzx.1_Missense_Mutation_p.L428V	p.L428V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		10	1584	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		428			Ig-like C2-type 5.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1282C>G	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	3.439	-0.114539	0.06881	.	.	ENSG00000128052	ENST00000263923	T	0.75821	-0.97	4.89	1.18	0.20946	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.074264	0.56097	D	0.000036	T	0.42966	0.1226	N	0.04705	-0.18	0.40497	D	0.980604	B;B	0.22346	0.068;0.001	B;B	0.21708	0.036;0.009	T	0.38499	-0.9658	10	0.02654	T	1	.	5.5629	0.17154	0.2282:0.289:0.4829:0.0	.	428;428	P35968-2;P35968	.;VGFR2_HUMAN	V	428	ENSP00000263923:L428V	ENSP00000263923:L428V	L	-	1	2	KDR	55668791	0.038000	0.19896	0.319000	0.25293	0.556000	0.35491	0.186000	0.16978	0.005000	0.14708	0.462000	0.41574	CTA		PASS	0.458	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			21	40	21	40	---	---	---	---
SRP72	6731	broad.mit.edu	37	4	57335839	57335839	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr4:57335839G>C	ENST00000342756.5	+	2	851	c.130G>C	c.(130-132)Gac>Cac	p.D44H	SRP72_ENST00000510663.1_Missense_Mutation_p.D44H|SRP72_ENST00000504757.1_Missense_Mutation_p.D44H	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	44					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.D44H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAACAAAGATGACGTAACTGC	0.358																																						uc003hbv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(130-132)GAC>CAC		signal recognition particle 72kDa							155.0	141.0	146.0					4																	57335839		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57335839G>C	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.130G>C	4.37:g.57335839G>C	ENSP00000342181:p.Asp44His					SRP72_uc010ihe.2_Missense_Mutation_p.D44H	p.D44H	NM_006947	NP_008878	O76094	SRP72_HUMAN			2	170	+	Glioma(25;0.08)|all_neural(26;0.101)		44			TPR 1.		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.130G>C	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419937	0.83559	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.76968	-1.06;-1.06	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.89563	0.3808	10	0.54805	T	0.06	.	16.4231	0.83773	0.0:0.0:1.0:0.0	.	44;44	G5E9Z8;O76094	.;SRP72_HUMAN	H	44;50;44	ENSP00000342181:D44H;ENSP00000424576:D44H	ENSP00000342181:D44H	D	+	1	0	SRP72	57030596	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.576000	0.98192	2.461000	0.83175	0.655000	0.94253	GAC		PASS	0.358	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			8	86	8	86	---	---	---	---
GC	2638	broad.mit.edu	37	4	72620739	72620739	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr4:72620739C>T	ENST00000273951.8	-	9	1463	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.E374K|GC_ENST00000504199.1_Missense_Mutation_p.E393K	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	374	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.E393K(1)|p.E374K(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TCACAGCATTCACCAAGGCTT	0.383																																						uc003hge.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1120-1122)GAA>AAA		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						142.0	132.0	135.0					4																	72620739		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72620739C>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1120G>A	4.37:g.72620739C>T	ENSP00000273951:p.Glu374Lys					GC_uc003hgd.2_Missense_Mutation_p.E252K|GC_uc010iie.2_Missense_Mutation_p.E374K|GC_uc010iif.2_Missense_Mutation_p.E393K	p.E374K	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		9	1273	-		all_hematologic(202;0.107)	374			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.1120G>A	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796541	0.31777	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	D;D;D	0.85258	-1.96;-1.96;-1.96	4.81	4.81	0.61882	.	0.275088	0.36338	N	0.002643	T	0.80660	0.4665	M	0.72118	2.19	0.42587	D	0.993237	B;P	0.45126	0.354;0.851	B;B	0.34138	0.051;0.176	T	0.79831	-0.1637	10	0.22109	T	0.4	.	13.5601	0.61784	0.0:1.0:0.0:0.0	.	393;374	D6RAK8;D6RF35	.;.	K	374;393;374	ENSP00000273951:E374K;ENSP00000421725:E393K;ENSP00000426683:E374K	ENSP00000273951:E374K	E	-	1	0	GC	72839603	0.987000	0.35691	0.924000	0.36721	0.226000	0.24999	3.601000	0.54059	2.635000	0.89317	0.561000	0.74099	GAA		PASS	0.383	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			27	33	27	33	---	---	---	---
GK2	2712	broad.mit.edu	37	4	80328221	80328221	+	Silent	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr4:80328221C>G	ENST00000358842.3	-	1	1151	c.1134G>C	c.(1132-1134)ggG>ggC	p.G378G		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.G378G(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CACAGAGTATCCCTCTTGCAC	0.423																																						uc003hlu.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(2)|skin(2)	4						c.(1132-1134)GGG>GGC		glycerol kinase 2							122.0	116.0	118.0					4																	80328221		2203	4300	6503	SO:0001819	synonymous_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328221C>G	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1134G>C	4.37:g.80328221C>G							p.G378G	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	1152	-			378					Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	c.1134G>C	CCDS3585.1																																																																																				PASS	0.423	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		26	66	26	66	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126355451	126355451	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr4:126355451T>A	ENST00000394329.3	+	7	7083	c.7070T>A	c.(7069-7071)gTc>gAc	p.V2357D	FAT4_ENST00000335110.5_Missense_Mutation_p.V655D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2357	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2357D(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTAGATGATGTCAATGACAAT	0.373																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(7069-7071)GTC>GAC		FAT tumor suppressor homolog 4 precursor							183.0	155.0	164.0					4																	126355451		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126355451T>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7070T>A	4.37:g.126355451T>A	ENSP00000377862:p.Val2357Asp					FAT4_uc011cgp.1_Missense_Mutation_p.V655D	p.V2357D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			7	7070	+			2357			Extracellular (Potential).|Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7070T>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031431	0.75504	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02103	4.45;4.45	5.0	3.82	0.43975	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.823306	0.09737	U	0.762448	T	0.09468	0.0233	M	0.84846	2.72	0.80722	D	1	P;P	0.48016	0.548;0.904	B;P	0.50378	0.332;0.639	T	0.01879	-1.1255	10	0.62326	D	0.03	.	10.7478	0.46191	0.0:0.0743:0.0:0.9257	.	655;2357	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	D	2357;655	ENSP00000377862:V2357D;ENSP00000335169:V655D	ENSP00000335169:V655D	V	+	2	0	FAT4	126574901	1.000000	0.71417	0.710000	0.30468	0.992000	0.81027	4.137000	0.58010	0.926000	0.37118	0.533000	0.62120	GTC		PASS	0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		27	59	27	59	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151765298	151765298	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr4:151765298T>C	ENST00000357115.3	-	28	4766	c.4523A>G	c.(4522-4524)cAg>cGg	p.Q1508R	LRBA_ENST00000510413.1_Missense_Mutation_p.Q1508R|LRBA_ENST00000535741.1_Missense_Mutation_p.Q1508R|LRBA_ENST00000507224.1_Missense_Mutation_p.Q1508R	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1508						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q1508R(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATCCATGTCCTGTAGAAGCCT	0.348																																						uc010ipj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(4522-4524)CAG>CGG		LPS-responsive vesicle trafficking, beach and							114.0	114.0	114.0					4																	151765298		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151765298T>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4523A>G	4.37:g.151765298T>C	ENSP00000349629:p.Gln1508Arg					LRBA_uc003ilt.3_Missense_Mutation_p.Q167R|LRBA_uc003ilu.3_Missense_Mutation_p.Q1508R	p.Q1508R	NM_006726	NP_006717	P50851	LRBA_HUMAN			28	4997	-	all_hematologic(180;0.151)		1508					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4523A>G	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.50|19.50	3.839010|3.839010	0.71373|0.71373	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224;ENST00000502839|ENST00000509835	T;T;T;T|.	0.64991|.	0.31;0.46;0.3;-0.13|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78104|0.78104	0.4231|0.4231	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;B|.	0.63880|.	0.993;0.001|.	D;B|.	0.70227|.	0.968;0.003|.	T|T	0.80243|0.80243	-0.1463|-0.1463	10|5	0.87932|.	D|.	0|.	.|.	15.8687|15.8687	0.79091|0.79091	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1508;1508|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	R|G	1508;1508;1508;1508;85|161	ENSP00000446299:Q1508R;ENSP00000421552:Q1508R;ENSP00000349629:Q1508R;ENSP00000422180:Q1508R|.	ENSP00000349629:Q1508R|.	Q|R	-|-	2|1	0|2	LRBA|LRBA	151984748|151984748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.970000|7.970000	0.88000|0.88000	2.205000|2.205000	0.71048|0.71048	0.454000|0.454000	0.30748|0.30748	CAG|AGG		PASS	0.348	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			47	55	47	55	---	---	---	---
VEGFC	7424	broad.mit.edu	37	4	177650746	177650746	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr4:177650746G>C	ENST00000280193.2	-	2	717	c.302C>G	c.(301-303)tCa>tGa	p.S101*	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	101					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.S101*(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCTGTCCTTGAGTTGAGGTT	0.373																																						uc003ius.1																			1	Substitution - Nonsense(1)		lung(1)	lung(5)	5						c.(301-303)TCA>TGA		vascular endothelial growth factor C							153.0	141.0	145.0					4																	177650746		1903	4120	6023	SO:0001587	stop_gained	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177650746G>C	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.302C>G	4.37:g.177650746G>C	ENSP00000280193:p.Ser101*						p.S101*	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	2	732	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	101					B2R9Q8	Nonsense_Mutation	SNP	ENST00000280193.2	37	c.302C>G	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	G	38	7.144219	0.98092	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.06	2.37	0.29283	.	0.540016	0.20350	N	0.094066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	0.6389	10.6419	0.45598	0.2137:0.0:0.7863:0.0	.	.	.	.	X	101	.	ENSP00000280193:S101X	S	-	2	0	VEGFC	177887740	0.365000	0.25006	0.024000	0.17045	0.108000	0.19459	2.205000	0.42770	0.254000	0.21573	0.484000	0.47621	TCA		PASS	0.373	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		15	43	15	43	---	---	---	---
DAP	1611	broad.mit.edu	37	5	10748327	10748327	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr5:10748327C>G	ENST00000230895.6	-	2	315	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	DAP_ENST00000510546.1_5'UTR|DAP_ENST00000432074.2_Missense_Mutation_p.E38Q	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cellular response to amino acid starvation (GO:0034198)|negative regulation of autophagy (GO:0010507)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)		death domain binding (GO:0070513)	p.E38Q(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				TCTTTCTCTTCTTTGGTGTCT	0.458																																						uc003jez.3																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)GAA>CAA		death-associated protein							248.0	191.0	211.0					5																	10748327		2203	4300	6503	SO:0001583	missense	1611				activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding	g.chr5:10748327C>G	X76105	CCDS3880.1	5p15.2	2008-07-18			ENSG00000112977	ENSG00000112977			2672	protein-coding gene	gene with protein product		600954				8530096, 7828849	Standard	NM_004394		Approved		uc003jez.4	P51397	OTTHUMG00000131041	ENST00000230895.6:c.112G>C	5.37:g.10748327C>G	ENSP00000230895:p.Glu38Gln					DAP_uc011cmw.1_Missense_Mutation_p.E38Q	p.E38Q	NM_004394	NP_004385	P51397	DAP1_HUMAN			2	319	-		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)	38					Q6FGC3|Q9BUC9	Missense_Mutation	SNP	ENST00000230895.6	37	c.112G>C	CCDS3880.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033170	0.75504	.	.	ENSG00000112977	ENST00000230895;ENST00000432074	T;T	0.30714	1.52;1.58	5.04	5.04	0.67666	.	.	.	.	.	T	0.51873	0.1700	M	0.69523	2.12	0.39718	D	0.971439	D;B	0.89917	1.0;0.077	D;B	0.70935	0.971;0.037	T	0.49263	-0.8958	9	0.22109	T	0.4	.	15.3287	0.74190	0.0:1.0:0.0:0.0	.	38;38	B4DQ75;P51397	.;DAP1_HUMAN	Q	38	ENSP00000230895:E38Q;ENSP00000394163:E38Q	ENSP00000230895:E38Q	E	-	1	0	DAP	10801327	1.000000	0.71417	0.645000	0.29479	0.989000	0.77384	2.987000	0.49378	2.351000	0.79841	0.655000	0.94253	GAA		PASS	0.458	DAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253687.1	NM_004394		25	62	25	62	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38950055	38950055	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr5:38950055T>C	ENST00000357387.3	-	31	3925	c.3895A>G	c.(3895-3897)Aga>Gga	p.R1299G	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1299G	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.R1299G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GACTGTGCTCTTCTAGGAAGC	0.438																																						uc003jlp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(3895-3897)AGA>GGA		rapamycin-insensitive companion of mTOR							99.0	94.0	96.0					5																	38950055		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950055T>C		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3895A>G	5.37:g.38950055T>C	ENSP00000349959:p.Arg1299Gly					RICTOR_uc003jlo.2_Missense_Mutation_p.R1299G|RICTOR_uc010ivf.2_Missense_Mutation_p.R1014G	p.R1299G	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			31	3919	-	all_lung(31;0.000396)		1299						Missense_Mutation	SNP	ENST00000357387.3	37	c.3895A>G	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379590	0.61845	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.54479	0.63;0.57	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.72347	-0.4321	10	0.87932	D	0	-21.6276	16.5724	0.84622	0.0:0.0:0.0:1.0	.	1299;1299	Q6R327;Q6R327-3	RICTR_HUMAN;.	G	1299	ENSP00000349959:R1299G;ENSP00000296782:R1299G	ENSP00000296782:R1299G	R	-	1	2	RICTOR	38985812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.852000	0.62904	2.313000	0.78055	0.455000	0.32223	AGA		PASS	0.438	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		17	164	17	164	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140580260	140580260	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr5:140580260G>A	ENST00000354757.3	+	1	913	c.913G>A	c.(913-915)Gca>Aca	p.A305T	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A305T(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACTTTAAGAGCACCTCTGGA	0.363																																						uc003liy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(913-915)GCA>ACA		protocadherin beta 11 precursor							69.0	74.0	72.0					5																	140580260		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580260G>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.913G>A	5.37:g.140580260G>A	ENSP00000346802:p.Ala305Thr					PCDHB11_uc011daj.1_5'UTR	p.A305T	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	913	+			305			Extracellular (Potential).|Cadherin 3.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.913G>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395847	0.25205	.	.	ENSG00000197479	ENST00000354757	T	0.03181	4.02	2.7	-0.594	0.11664	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02970	0.0088	L	0.35414	1.06	0.19300	N	0.999979	B	0.18968	0.032	B	0.26693	0.072	T	0.46665	-0.9175	9	0.49607	T	0.09	.	1.0726	0.01624	0.2237:0.1735:0.4258:0.177	.	305	Q9Y5F2	PCDBB_HUMAN	T	305	ENSP00000346802:A305T	ENSP00000346802:A305T	A	+	1	0	PCDHB11	140560444	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.215000	0.09279	-0.328000	0.08539	0.467000	0.42956	GCA		PASS	0.363	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		32	19	32	19	---	---	---	---
FAF2	23197	broad.mit.edu	37	5	175933902	175933902	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr5:175933902G>C	ENST00000261942.6	+	11	1342	c.1289G>C	c.(1288-1290)gGa>gCa	p.G430A		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	430	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.G430A(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CAGGAGGCCGGACTCAGCCAC	0.512																																						uc003mej.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1288-1290)GGA>GCA		UBX domain containing 8							105.0	108.0	107.0					5																	175933902		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175933902G>C	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.1289G>C	5.37:g.175933902G>C	ENSP00000261942:p.Gly430Ala						p.G430A	NM_014613	NP_055428	Q96CS3	FAF2_HUMAN			11	1342	+			430			UBX.		O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.1289G>C	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352651	0.82132	.	.	ENSG00000113194	ENST00000261942	.	.	.	4.89	4.89	0.63831	UBX (2);	0.103679	0.64402	D	0.000003	D	0.83013	0.5162	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85455	0.1163	9	0.72032	D	0.01	-14.4864	18.2629	0.90041	0.0:0.0:1.0:0.0	.	430	Q96CS3	FAF2_HUMAN	A	430	.	ENSP00000261942:G430A	G	+	2	0	FAF2	175866508	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.222000	0.95196	2.527000	0.85204	0.561000	0.74099	GGA		PASS	0.512	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		3	46	3	46	---	---	---	---
SQSTM1	8878	broad.mit.edu	37	5	179249985	179249985	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr5:179249985C>T	ENST00000389805.4	+	2	411	c.233C>T	c.(232-234)tCc>tTc	p.S78F	SQSTM1_ENST00000360718.5_5'UTR|SQSTM1_ENST00000402874.3_5'UTR|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S78F|SQSTM1_ENST00000376929.3_5'UTR	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	78	Interaction with PAWR.|Interaction with PRKCZ and dimerization. {ECO:0000250}.|OPR.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.S78F(1)	SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGCCTTTTCCAGTGACGAG	0.517																																						uc003mkw.3																		SQSTM1/ALK(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(232-234)TCC>TTC		sequestosome 1 isoform 1							137.0	121.0	126.0					5																	179249985		2203	4299	6502	SO:0001583	missense	8878	Paget_Disease_of_Bone			anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179249985C>T	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.233C>T	5.37:g.179249985C>T	ENSP00000374455:p.Ser78Phe					SQSTM1_uc011dgr.1_5'UTR|SQSTM1_uc011dgs.1_5'UTR|SQSTM1_uc003mkv.3_Missense_Mutation_p.S78F|SQSTM1_uc003mkx.2_5'UTR	p.S78F	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	328	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	78			OPR.|Interaction with PRKCZ and dimerization (By similarity).|Interaction with PAWR.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.233C>T	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244662	0.95272	.	.	ENSG00000161011	ENST00000389805;ENST00000504627;ENST00000510187	T;T;T	0.25250	1.81;1.81;1.81	5.47	5.47	0.80525	Phox/Bem1p (2);	0.063716	0.64402	D	0.000001	T	0.51873	0.1700	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.69142	0.949;0.962	T	0.46076	-0.9217	10	0.37606	T	0.19	-26.3376	18.9332	0.92574	0.0:1.0:0.0:0.0	.	78;78	Q13501;E7EMC7	SQSTM_HUMAN;.	F	78;101;78	ENSP00000374455:S78F;ENSP00000425957:S101F;ENSP00000424477:S78F	ENSP00000374455:S78F	S	+	2	0	SQSTM1	179182591	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.619000	0.83057	2.562000	0.86427	0.561000	0.74099	TCC		PASS	0.517	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			13	2	13	2	---	---	---	---
DST	667	broad.mit.edu	37	6	56341132	56341132	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr6:56341132G>C	ENST00000361203.3	-	87	20726	c.20719C>G	c.(20719-20721)Ctg>Gtg	p.L6907V	DST_ENST00000370788.2_Missense_Mutation_p.L4821V|DST_ENST00000370754.5_Missense_Mutation_p.L7196V|DST_ENST00000446842.2_Missense_Mutation_p.L6692V|DST_ENST00000244364.6_Missense_Mutation_p.L4604V|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.L4930V|DST_ENST00000370769.4_Missense_Mutation_p.L7018V			Q03001	DYST_HUMAN	dystonin	6907					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L7018V(1)|p.L4604V(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCCAGGCCAGCACCTGTCAG	0.388																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(15322-15324)CTG>GTG		dystonin isoform 2							31.0	30.0	30.0					6																	56341132		1870	4096	5966	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56341132G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20719C>G	6.37:g.56341132G>C	ENSP00000354508:p.Leu6907Val					DST_uc003pcz.3_Missense_Mutation_p.L4930V|DST_uc011dxj.1_Missense_Mutation_p.L4959V|DST_uc011dxk.1_Missense_Mutation_p.L4970V|DST_uc003pcy.3_Missense_Mutation_p.L4604V	p.L5108V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		86	15350	-	Lung NSC(77;0.103)		7016			Spectrin 20.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.15322C>G		.	.	.	.	.	.	.	.	.	.	G	15.02	2.707919	0.48412	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.74	4.85	0.62838	.	0.000000	0.42294	D	0.000731	T	0.50650	0.1628	M	0.67953	2.075	0.31130	N	0.707892	D;D;D;D;P	0.76494	0.999;0.994;0.987;0.978;0.536	D;D;P;P;B	0.85130	0.997;0.96;0.899;0.78;0.349	T	0.54735	-0.8249	9	0.28530	T	0.3	.	9.2598	0.37605	0.2155:0.0:0.7845:0.0	.	4930;7018;7196;7016;4604	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	4604;7196;7018;4930;6692;4821;6907	ENSP00000244364:L4604V;ENSP00000359790:L7196V;ENSP00000359805:L7018V;ENSP00000400883:L4930V;ENSP00000393645:L6692V;ENSP00000359824:L4821V;ENSP00000354508:L6907V	ENSP00000244364:L4604V	L	-	1	2	DST	56449091	0.997000	0.39634	1.000000	0.80357	0.954000	0.61252	2.650000	0.46665	1.502000	0.48669	0.563000	0.77884	CTG		PASS	0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	6	5	6	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75892986	75892986	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr6:75892986G>A	ENST00000322507.8	-	10	1980	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	COL12A1_ENST00000483888.2_Silent_p.F557F|COL12A1_ENST00000416123.2_Silent_p.F557F|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	557	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.F557F(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGATCTCTGAAAGCATCTG	0.428																																						uc003phs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(1669-1671)TTC>TTT		collagen, type XII, alpha 1 long isoform							170.0	161.0	164.0					6																	75892986		1917	4135	6052	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75892986G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1671C>T	6.37:g.75892986G>A						COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Silent_p.F215F	p.F557F	NM_004370	NP_004361	Q99715	COCA1_HUMAN			10	1837	-			557			VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.1671C>T	CCDS43482.1																																																																																				PASS	0.428	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		71	97	71	97	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	94120288	94120288	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr6:94120288C>T	ENST00000369303.4	-	3	947	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	EPHA7_ENST00000369297.1_Missense_Mutation_p.E255K	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	255	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.E255K(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACTAACCATTCTCCTTCTGCA	0.463																																						uc003poe.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(763-765)GAA>AAA		ephrin receptor EphA7 precursor							107.0	107.0	107.0					6																	94120288		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120288C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.763G>A	6.37:g.94120288C>T	ENSP00000358309:p.Glu255Lys					EPHA7_uc003pof.2_Missense_Mutation_p.E255K|EPHA7_uc011eac.1_Missense_Mutation_p.E255K|EPHA7_uc003pog.3_Missense_Mutation_p.E255K	p.E255K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	1004	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	255			Extracellular (Potential).|Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.763G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267976	0.95429	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.72615	-0.67;4.32	5.46	5.46	0.80206	Tyrosine-protein kinase, receptor class V, conserved site (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.80660	0.4665	M	0.64080	1.96	0.80722	D	1	D;D;D;D	0.76494	0.974;0.999;0.999;0.999	D;D;D;D	0.74348	0.953;0.953;0.983;0.961	T	0.81618	-0.0851	10	0.87932	D	0	.	19.6635	0.95885	0.0:1.0:0.0:0.0	.	255;255;255;255	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	K	255	ENSP00000358309:E255K;ENSP00000358303:E255K	ENSP00000358303:E255K	E	-	1	0	EPHA7	94177009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.720000	0.93068	0.655000	0.94253	GAA		PASS	0.463	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			24	38	24	38	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129714246	129714246	+	Missense_Mutation	SNP	A	A	G	rs141950826		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr6:129714246A>G	ENST00000421865.2	+	37	5340	c.5291A>G	c.(5290-5292)gAa>gGa	p.E1764G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1764	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.E1764G(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCCGGGGGGAAAATGAAGAA	0.453													A|||	1	0.000199681	0.0	0.0	5008	,	,		14566	0.0		0.0	False		,,,				2504	0.001					uc003qbn.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(8)|breast(1)|skin(1)	10						c.(5290-5292)GAA>GGA		laminin alpha 2 subunit isoform a precursor		A	GLY/GLU,GLY/GLU	0,4406		0,0,2203	61.0	67.0	65.0		5291,5291	5.5	0.1	6	dbSNP_134	65	1,8599		0,1,4299	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	98,98	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	1764/3123,1764/3119	129714246	1,13005	2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129714246A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5291A>G	6.37:g.129714246A>G	ENSP00000400365:p.Glu1764Gly					LAMA2_uc003qbo.2_Missense_Mutation_p.E1764G	p.E1764G	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	37	5396	+			1764			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.5291A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.272558	0.23221	0.0	1.16E-4	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.14391	2.51	5.5	5.5	0.81552	Laminin I (1);	0.357971	0.29715	N	0.011395	T	0.03348	0.0097	N	0.08118	0	0.22940	N	0.998539	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.34527	-0.9825	10	0.66056	D	0.02	.	15.6049	0.76658	1.0:0.0:0.0:0.0	.	1764;1764	A6NF00;P24043	.;LAMA2_HUMAN	G	1764	ENSP00000400365:E1764G	ENSP00000346769:E1764G	E	+	2	0	LAMA2	129755939	1.000000	0.71417	0.115000	0.21578	0.085000	0.17905	3.854000	0.55949	2.087000	0.62958	0.472000	0.43445	GAA		PASS	0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			25	28	25	28	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136589359	136589359	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr6:136589359G>A	ENST00000531224.1	-	10	2590	c.2338C>T	c.(2338-2340)Cac>Tac	p.H780Y	BCLAF1_ENST00000353331.4_Missense_Mutation_p.H778Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.H778Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H778Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.H780Y|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.H607Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	780					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.H780Y(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTTCATGGTGAGTTTTAAAT	0.388																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2338-2340)CAC>TAC		BCL2-associated transcription factor 1 isoform							197.0	180.0	186.0					6																	136589359		2203	4298	6501	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589359G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2338C>T	6.37:g.136589359G>A	ENSP00000435210:p.His780Tyr					BCLAF1_uc011edb.1_Missense_Mutation_p.H108Y|BCLAF1_uc003qgw.1_Missense_Mutation_p.H607Y|BCLAF1_uc003qgy.1_Missense_Mutation_p.H778Y|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.H778Y	p.H780Y	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2591	-	Colorectal(23;0.24)		780					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2338C>T	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.25|18.25	3.582676|3.582676	0.65992|0.65992	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348|ENST00000534762	T;T;T;T;T;T|.	0.14766|.	2.48;2.48;2.48;2.48;2.48;2.48|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.39118|0.39118	0.1066|0.1066	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P;D;P;P;D|.	0.64830|.	0.908;0.994;0.952;0.908;0.978|.	B;P;B;B;P|.	0.61328|.	0.301;0.796;0.446;0.301;0.887|.	T|T	0.34254|0.34254	-0.9836|-0.9836	10|5	0.72032|.	D|.	0.01|.	-5.8186|-5.8186	19.1534|19.1534	0.93499|0.93499	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	778;108;778;780;607|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	Y|L	780;778;780;607;778;778|46	ENSP00000435210:H780Y;ENSP00000229446:H778Y;ENSP00000435441:H780Y;ENSP00000436501:H607Y;ENSP00000434826:H778Y;ENSP00000376159:H778Y|.	ENSP00000229446:H778Y|.	H|S	-|-	1|2	0|0	BCLAF1|BCLAF1	136631052|136631052	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.938000|0.938000	0.57974|0.57974	7.886000|7.886000	0.87288|0.87288	2.549000|2.549000	0.85964|0.85964	0.484000|0.484000	0.47621|0.47621	CAC|TCA		PASS	0.388	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		34	108	34	108	---	---	---	---
AKAP12	9590	broad.mit.edu	37	6	151670166	151670166	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr6:151670166G>A	ENST00000253332.1	+	3	829	c.640G>A	c.(640-642)Gac>Aac	p.D214N	AKAP12_ENST00000490177.1_3'UTR|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000402676.2_Missense_Mutation_p.D214N|AKAP12_ENST00000359755.5_Missense_Mutation_p.D109N|AKAP12_ENST00000354675.6_Missense_Mutation_p.D116N			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	214					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.D214N(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGGGCTGGCGACCACAAGGA	0.517																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(640-642)GAC>AAC		A kinase (PRKA) anchor protein 12 isoform 1							54.0	59.0	58.0					6																	151670166		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670166G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.640G>A	6.37:g.151670166G>A	ENSP00000253332:p.Asp214Asn					AKAP12_uc003qoe.2_Missense_Mutation_p.D214N|AKAP12_uc003qof.2_Missense_Mutation_p.D116N|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.D109N	p.D214N	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	880	+		Ovarian(120;0.125)	214					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.640G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392595	0.62066	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10382	2.88;2.88;2.9;2.9	5.41	5.41	0.78517	.	0.000000	0.43416	D	0.000571	T	0.12433	0.0302	M	0.70595	2.14	0.46542	D	0.999093	D;D;D	0.67145	0.996;0.996;0.992	P;P;P	0.52881	0.712;0.712;0.615	T	0.07751	-1.0756	10	0.19590	T	0.45	.	12.8778	0.57999	0.0747:0.0:0.9253:0.0	.	109;116;214	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	N	214;214;116;109	ENSP00000384537:D214N;ENSP00000253332:D214N;ENSP00000346702:D116N;ENSP00000352794:D109N	ENSP00000253332:D214N	D	+	1	0	AKAP12	151711859	1.000000	0.71417	0.969000	0.41365	0.019000	0.09904	5.380000	0.66202	2.709000	0.92574	0.557000	0.71058	GAC		PASS	0.517	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			33	37	33	37	---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40134111	40134111	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr7:40134111C>T	ENST00000181839.4	+	14	4676	c.4071C>T	c.(4069-4071)agC>agT	p.S1357S	CDK13_ENST00000340829.5_Silent_p.S1297S	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1357					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.S1357S(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GTCTAGGAAGCAGTTCTGCTC	0.433																																						uc003thh.3																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)	5						c.(4069-4071)AGC>AGT		cell division cycle 2-like 5 isoform 1							182.0	180.0	181.0					7																	40134111		2203	4300	6503	SO:0001819	synonymous_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40134111C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4071C>T	7.37:g.40134111C>T						CDK13_uc003thi.3_Silent_p.S1297S|CDK13_uc003thj.2_Silent_p.S408S|CDK13_uc003thk.2_Silent_p.S290S	p.S1357S	NM_003718	NP_003709	Q14004	CDK13_HUMAN			14	4353	+			1357					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	c.4071C>T	CCDS5461.1																																																																																				PASS	0.433	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		47	88	47	88	---	---	---	---
RUNDC3B	154661	broad.mit.edu	37	7	87329807	87329807	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr7:87329807A>T	ENST00000338056.3	+	4	771	c.360A>T	c.(358-360)aaA>aaT	p.K120N	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.K103N|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.K103N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	120	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.							p.K120N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTTGCCGGAAAGTTTCACAGA	0.378																																						uc003ujb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(358-360)AAA>AAT		RUN domain containing 3B isoform a							78.0	76.0	77.0					7																	87329807		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87329807A>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.360A>T	7.37:g.87329807A>T	ENSP00000337732:p.Lys120Asn					ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.K103N|RUNDC3B_uc011khe.1_Missense_Mutation_p.K103N|RUNDC3B_uc003ujc.2_Missense_Mutation_p.K103N|RUNDC3B_uc003ujd.2_Missense_Mutation_p.K25N	p.K120N	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			4	771	+	Esophageal squamous(14;0.00164)		120			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.360A>T	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.949947	0.73787	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.30182	1.54;1.54;1.54	5.18	1.48	0.22813	RUN (2);	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	M	0.83603	2.65	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.989;0.988	D;D;D;D;P	0.87578	0.998;0.998;0.994;0.985;0.893	T	0.44375	-0.9332	10	0.27082	T	0.32	-17.3634	6.8799	0.24166	0.549:0.0:0.451:0.0	.	103;103;25;103;120	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	N	120;103;103	ENSP00000337732:K120N;ENSP00000420394:K103N;ENSP00000378149:K103N	ENSP00000337732:K120N	K	+	3	2	RUNDC3B	87167743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.093000	0.30939	0.306000	0.22856	0.477000	0.44152	AAA		PASS	0.378	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		16	51	16	51	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100348836	100348836	+	RNA	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr7:100348836C>T	ENST00000348028.3	+	0	1718				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T518M(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGAAGCAACACGGCCTCTGTG	0.517																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(1552-1554)ACG>ATG		zonadhesin isoform 3							84.0	80.0	81.0					7																	100348836		1878	4110	5988			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100348836C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100348836C>T						ZAN_uc003uwk.2_Missense_Mutation_p.T518M|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.T518M	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		13	1718	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		518			MAM 3.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.1553C>T		.	.	.	.	.	.	.	.	.	.	C	8.692	0.907590	0.17833	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02067	4.47;4.47;4.47	3.13	0.274	0.15654	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	1.317480	0.05591	N	0.574616	T	0.03608	0.0103	M	0.65975	2.015	0.09310	N	0.999999	B;B	0.26775	0.132;0.159	B;B	0.23018	0.026;0.043	T	0.44112	-0.9349	10	0.87932	D	0	.	3.9279	0.09272	0.0:0.5692:0.1956:0.2351	.	518;518	F5H0T8;Q9Y493	.;ZAN_HUMAN	M	518	ENSP00000445943:T518M;ENSP00000445091:T518M;ENSP00000444427:T518M	ENSP00000423579:T518M	T	+	2	0	ZAN	100186772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.593000	0.05740	0.023000	0.15187	-0.212000	0.12691	ACG		PASS	0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		11	21	11	21	---	---	---	---
COG5	10466	broad.mit.edu	37	7	107204283	107204283	+	Missense_Mutation	SNP	G	G	T	rs368239973		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr7:107204283G>T	ENST00000347053.3	-	1	202	c.152C>A	c.(151-153)gCg>gAg	p.A51E	DUS4L_ENST00000498786.1_Intron|DUS4L_ENST00000402620.1_5'Flank|COG5_ENST00000297135.3_Missense_Mutation_p.A51E|DUS4L_ENST00000265720.3_5'Flank|COG5_ENST00000393603.2_Missense_Mutation_p.A51E	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	51					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.A51E(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AGCTGCAGCCGCTCCAGAGCC	0.662																																						uc003ved.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)	4						c.(151-153)GCG>GAG		component of oligomeric golgi complex 5 isoform							38.0	37.0	38.0					7																	107204283		2195	4287	6482	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107204283G>T	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.152C>A	7.37:g.107204283G>T	ENSP00000334703:p.Ala51Glu					COG5_uc003vec.2_Missense_Mutation_p.A51E|COG5_uc003vee.2_Missense_Mutation_p.A51E|DUS4L_uc003veg.2_5'Flank|DUS4L_uc003veh.2_5'Flank|DUS4L_uc011klw.1_5'Flank|DUS4L_uc011klx.1_5'Flank	p.A51E	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			1	677	-			51					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.152C>A	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	7.983	0.751564	0.15778	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.20598	2.06;2.07;2.07	5.93	2.03	0.26663	.	0.659626	0.15734	N	0.247250	T	0.12603	0.0306	N	0.24115	0.695	0.24039	N	0.996083	B;B	0.30634	0.19;0.288	B;B	0.33254	0.077;0.16	T	0.32481	-0.9905	10	0.21540	T	0.41	-0.0065	6.6455	0.22933	0.1527:0.2736:0.5737:0.0	.	51;51	Q9UP83;Q9UP83-2	COG5_HUMAN;.	E	51	ENSP00000334703:A51E;ENSP00000297135:A51E;ENSP00000377228:A51E	ENSP00000297135:A51E	A	-	2	0	COG5	106991519	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	0.291000	0.18994	0.093000	0.17368	-0.216000	0.12614	GCG		PASS	0.662	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			17	26	17	26	---	---	---	---
TAS2R16	50833	broad.mit.edu	37	7	122635238	122635238	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr7:122635238G>C	ENST00000249284.2	-	1	516	c.451C>G	c.(451-453)Caa>Gaa	p.Q151E		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	151					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.Q151E(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACTGAATTTGAATGTAATTC	0.398																																						uc003vkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(451-453)CAA>GAA		taste receptor T2R16							156.0	149.0	151.0					7																	122635238		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635238G>C	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.451C>G	7.37:g.122635238G>C	ENSP00000249284:p.Gln151Glu						p.Q151E	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	517	-			151			Extracellular (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.451C>G	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.450221	0.01080	.	.	ENSG00000128519	ENST00000249284	T	0.36340	1.26	4.56	-2.6	0.06190	.	3.076850	0.01081	N	0.004999	T	0.22820	0.0551	L	0.41236	1.265	0.09310	N	1	B	0.21905	0.062	B	0.27500	0.08	T	0.09530	-1.0670	10	0.02654	T	1	.	0.4252	0.00462	0.2804:0.1228:0.2758:0.321	.	151	Q9NYV7	T2R16_HUMAN	E	151	ENSP00000249284:Q151E	ENSP00000249284:Q151E	Q	-	1	0	TAS2R16	122422474	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.883000	0.04170	-0.288000	0.09051	0.655000	0.94253	CAA		PASS	0.398	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		17	54	17	54	---	---	---	---
SSMEM1	136263	broad.mit.edu	37	7	129856090	129856090	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr7:129856090C>T	ENST00000297819.3	+	3	566	c.515C>T	c.(514-516)tCa>tTa	p.S172L		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	172						integral component of membrane (GO:0016021)		p.S172L(1)									CACCACCCATCACCAGACAGT	0.478																																						uc003vpp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)TCA>TTA		hypothetical protein LOC136263							97.0	98.0	98.0					7																	129856090		2203	4300	6503	SO:0001583	missense	136263					integral to membrane		g.chr7:129856090C>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.515C>T	7.37:g.129856090C>T	ENSP00000297819:p.Ser172Leu						p.S172L	NM_145268	NP_660311	Q8WWF3	CG045_HUMAN			3	562	+	Melanoma(18;0.0435)		172						Missense_Mutation	SNP	ENST00000297819.3	37	c.515C>T	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377210	0.61735	.	.	ENSG00000165120	ENST00000297819	T	0.54675	0.56	5.71	4.83	0.62350	.	0.534948	0.16640	N	0.205677	T	0.48677	0.1513	M	0.63428	1.95	0.09310	N	1	B	0.28178	0.202	B	0.26202	0.067	T	0.50482	-0.8823	10	0.72032	D	0.01	-9.7987	8.414	0.32659	0.0:0.7633:0.1544:0.0823	.	172	Q8WWF3	CG045_HUMAN	L	172	ENSP00000297819:S172L	ENSP00000297819:S172L	S	+	2	0	C7orf45	129643326	0.077000	0.21312	0.462000	0.27118	0.989000	0.77384	1.100000	0.31025	1.428000	0.47296	0.491000	0.48974	TCA		PASS	0.478	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		27	36	27	36	---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138265404	138265404	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr7:138265404G>A	ENST00000343526.4	+	16	2898	c.2683G>A	c.(2683-2685)Gaa>Aaa	p.E895K	TRIM24_ENST00000415680.2_Missense_Mutation_p.E861K			O15164	TIF1A_HUMAN	tripartite motif containing 24	895					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E895K(1)|p.E861K(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAAGAAAACTGAAGGCCTTGT	0.373																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(2683-2685)GAA>AAA		transcriptional intermediary factor 1 alpha							122.0	118.0	119.0					7																	138265404		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138265404G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2683G>A	7.37:g.138265404G>A	ENSP00000340507:p.Glu895Lys					TRIM24_uc003vub.2_Missense_Mutation_p.E861K	p.E895K	NM_015905	NP_056989	O15164	TIF1A_HUMAN			16	2898	+			895			Nuclear localization signal (Potential).		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.2683G>A	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771883	0.49680	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.18338	2.22;2.22	4.99	4.99	0.66335	Bromodomain (1);	0.449819	0.27563	N	0.018807	T	0.17831	0.0428	L	0.53249	1.67	0.40407	D	0.979716	B;B	0.18968	0.032;0.014	B;B	0.15870	0.011;0.014	T	0.09509	-1.0671	10	0.07813	T	0.8	-4.6365	17.8566	0.88765	0.0:0.0:1.0:0.0	.	895;861	O15164;O15164-2	TIF1A_HUMAN;.	K	895;806;861	ENSP00000340507:E895K;ENSP00000390829:E861K	ENSP00000340507:E895K	E	+	1	0	TRIM24	137915944	1.000000	0.71417	0.122000	0.21767	0.986000	0.74619	4.541000	0.60670	2.316000	0.78162	0.655000	0.94253	GAA		PASS	0.373	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		45	65	45	65	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140301990	140301990	+	Missense_Mutation	SNP	C	C	T	rs199780090	byFrequency	TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr7:140301990C>T	ENST00000275884.6	-	2	625	c.208G>A	c.(208-210)Gga>Aga	p.G70R	DENND2A_ENST00000537639.1_Missense_Mutation_p.G70R|DENND2A_ENST00000496613.1_Missense_Mutation_p.G70R|DENND2A_ENST00000492720.1_Missense_Mutation_p.G70R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	70					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G70R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCTCCTGTCCGTCTGCTCTC	0.547													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20953	0.0		0.0	False		,,,				2504	0.0					uc010lnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(208-210)GGA>AGA		DENN/MADD domain containing 2A		C	ARG/GLY	9,3907		0,9,1949	173.0	165.0	167.0		208	3.1	0.0	7		167	0,8332		0,0,4166	yes	missense	DENND2A	NM_015689.3	125	0,9,6115	TT,TC,CC		0.0,0.2298,0.0735	benign	70/1010	140301990	9,12239	1958	4166	6124	SO:0001583	missense	27147							g.chr7:140301990C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.208G>A	7.37:g.140301990C>T	ENSP00000275884:p.Gly70Arg					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G70R|DENND2A_uc003vvw.2_Missense_Mutation_p.G70R|DENND2A_uc003vvx.2_Missense_Mutation_p.G70R	p.G70R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			1	353	-	Melanoma(164;0.00956)		70					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.208G>A	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.332882	0.24167	0.002298	0.0	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728;ENST00000489552;ENST00000477488	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	4.85	3.07	0.35406	.	0.920925	0.09297	N	0.821495	T	0.66799	0.2826	L	0.50333	1.59	0.09310	N	1	P;B	0.47962	0.903;0.181	B;B	0.35899	0.213;0.042	T	0.50980	-0.8763	10	0.20046	T	0.44	-10.9697	8.581	0.33628	0.0:0.6967:0.0:0.3033	.	70;70	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	R	70	ENSP00000275884:G70R;ENSP00000442245:G70R;ENSP00000419654:G70R;ENSP00000419464:G70R;ENSP00000418844:G70R;ENSP00000418088:G70R	ENSP00000275884:G70R	G	-	1	0	DENND2A	139948459	0.047000	0.20315	0.003000	0.11579	0.012000	0.07955	2.669000	0.46825	0.675000	0.31264	-0.119000	0.15052	GGA		PASS	0.547	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		69	63	69	63	---	---	---	---
TAS2R41	259287	broad.mit.edu	37	7	143175246	143175246	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr7:143175246C>T	ENST00000408916.1	+	1	281	c.281C>T	c.(280-282)tCa>tTa	p.S94L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	94					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S94L(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTCCTGAACTCAGCCACCTTC	0.537																																						uc003wdc.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(280-282)TCA>TTA		taste receptor, type 2, member 41							98.0	98.0	98.0					7																	143175246		1997	4179	6176	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175246C>T	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.281C>T	7.37:g.143175246C>T	ENSP00000386201:p.Ser94Leu					uc003wda.2_Intron	p.S94L	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	281	+	Melanoma(164;0.15)		94			Helical; Name=3; (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.281C>T	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	7.912	0.736787	0.15574	.	.	ENSG00000221855	ENST00000408916	T	0.36520	1.25	5.9	4.12	0.48240	.	0.472400	0.18363	N	0.143519	T	0.28400	0.0702	L	0.56199	1.76	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.30794	-0.9966	10	0.11485	T	0.65	.	6.6743	0.23085	0.0:0.6967:0.146:0.1573	.	94	P59536	T2R41_HUMAN	L	94	ENSP00000386201:S94L	ENSP00000386201:S94L	S	+	2	0	TAS2R41	142885368	0.000000	0.05858	0.063000	0.19743	0.079000	0.17450	0.076000	0.14712	0.842000	0.35045	-0.126000	0.14955	TCA		PASS	0.537	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			28	38	28	38	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41834781	41834781	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr8:41834781G>A	ENST00000396930.3	-	8	1651	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	KAT6A_ENST00000485568.1_Missense_Mutation_p.L370F|KAT6A_ENST00000265713.2_Missense_Mutation_p.L370F|KAT6A_ENST00000406337.1_Missense_Mutation_p.L370F	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	370	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L370F(1)									TGGCTGGAAAGAGTGATTTTT	0.418																																						uc010lxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1108-1110)CTT>TTT		MYST histone acetyltransferase (monocytic							125.0	112.0	116.0					8																	41834781		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41834781G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1108C>T	8.37:g.41834781G>A	ENSP00000380136:p.Leu370Phe					MYST3_uc010lxc.2_Missense_Mutation_p.L370F|MYST3_uc003xon.3_Missense_Mutation_p.L370F|MYST3_uc010lxd.2_Missense_Mutation_p.L370F	p.L370F	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		8	1652	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	370			Interaction with RUNX1-1.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.1108C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878406	0.33162	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84442	0.21;0.21;0.21;-1.85	5.37	2.38	0.29361	.	0.307769	0.27654	N	0.018409	T	0.69958	0.3169	N	0.19112	0.55	0.21933	N	0.999464	B;P	0.36065	0.257;0.535	B;B	0.34722	0.08;0.188	T	0.59931	-0.7361	10	0.37606	T	0.19	-5.8053	5.4056	0.16320	0.0696:0.1294:0.5484:0.2527	.	370;370	A5PLL3;Q92794	.;KAT6A_HUMAN	F	370	ENSP00000265713:L370F;ENSP00000385888:L370F;ENSP00000380136:L370F;ENSP00000430606:L370F	ENSP00000265713:L370F	L	-	1	0	KAT6A	41953938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.500000	0.45381	0.581000	0.29539	0.650000	0.86243	CTT		PASS	0.418	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		36	44	36	44	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48711773	48711773	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr8:48711773G>C	ENST00000314191.2	-	73	10348	c.10292C>G	c.(10291-10293)tCa>tGa	p.S3431*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S3431*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3432	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.S3431*(1)|p.S3432*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAATTCACCTGATGCATTCTC	0.433								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - Nonsense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(10294-10296)TCA>TGA	NHEJ	protein kinase, DNA-activated, catalytic							72.0	72.0	72.0					8																	48711773		1930	4155	6085	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48711773G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10292C>G	8.37:g.48711773G>C	ENSP00000313420:p.Ser3431*					PRKDC_uc003xqj.2_Nonsense_Mutation_p.S3432*|PRKDC_uc011ldh.1_Intron	p.S3432*	NM_006904	NP_008835	P78527	PRKDC_HUMAN			73	10352	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3432			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.10295C>G		.	.	.	.	.	.	.	.	.	.	G	49	15.894413	0.99848	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.72	5.72	0.89469	.	0.994257	0.08168	N	0.987390	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	18.6318	0.91363	0.0:0.0:1.0:0.0	.	.	.	.	X	3431	.	ENSP00000313420:S3431X	S	-	2	0	PRKDC	48874326	0.052000	0.20516	0.199000	0.23439	0.036000	0.12997	1.975000	0.40569	2.705000	0.92388	0.655000	0.94253	TCA		PASS	0.433	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		18	30	18	30	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52233370	52233370	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr8:52233370C>T	ENST00000356297.4	-	22	4334	c.4234G>A	c.(4234-4236)Gaa>Aaa	p.E1412K	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1412	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.E1412K(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGCAGTCTTCTTTCATCCAG	0.512																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(4234-4236)GAA>AAA		peroxidasin homolog-like precursor							131.0	144.0	140.0					8																	52233370		1936	4132	6068	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52233370C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4234G>A	8.37:g.52233370C>T	ENSP00000348645:p.Glu1412Lys					PXDNL_uc003xqt.3_RNA	p.E1412K	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			22	4335	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1412			VWFC.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.4234G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297805	0.40694	.	.	ENSG00000147485	ENST00000356297	T	0.65549	-0.16	4.49	3.61	0.41365	von Willebrand factor, type C (3);	.	.	.	.	T	0.59293	0.2183	L	0.35487	1.065	0.46061	D	0.998841	P	0.48294	0.908	P	0.52343	0.696	T	0.60326	-0.7285	9	0.87932	D	0	.	8.3878	0.32510	0.0:0.8885:0.0:0.1115	.	1412	A1KZ92	PXDNL_HUMAN	K	1412	ENSP00000348645:E1412K	ENSP00000348645:E1412K	E	-	1	0	PXDNL	52395923	0.322000	0.24634	0.063000	0.19743	0.014000	0.08584	1.948000	0.40303	0.864000	0.35578	0.655000	0.94253	GAA		PASS	0.512	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		43	50	43	50	---	---	---	---
NPBWR1	2831	broad.mit.edu	37	8	53852511	53852511	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr8:53852511C>T	ENST00000331251.3	+	1	1521	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	15					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.S15L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCAACGCATCGGGCCCGGAC	0.711																																						uc011ldu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(43-45)TCG>TTG		G protein-coupled receptor 7							8.0	10.0	9.0					8																	53852511		2163	4239	6402	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53852511C>T	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.44C>T	8.37:g.53852511C>T	ENSP00000330284:p.Ser15Leu						p.S15L	NM_005285	NP_005276	P48145	NPBW1_HUMAN			1	44	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	15			Extracellular (Potential).		Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.44C>T	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984077	0.74474	.	.	ENSG00000183729	ENST00000331251	T	0.54675	0.56	4.74	4.74	0.60224	.	0.464553	0.14966	U	0.288077	T	0.55242	0.1908	N	0.08118	0	0.42764	D	0.993811	D	0.89917	1.0	D	0.74023	0.982	T	0.65425	-0.6171	10	0.62326	D	0.03	.	17.0842	0.86606	0.0:1.0:0.0:0.0	.	15	P48145	NPBW1_HUMAN	L	15	ENSP00000330284:S15L	ENSP00000330284:S15L	S	+	2	0	NPBWR1	54015064	0.276000	0.24211	0.089000	0.20774	0.005000	0.04900	1.617000	0.36943	2.340000	0.79590	0.650000	0.86243	TCG		PASS	0.711	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		3	8	3	8	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55538285	55538285	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr8:55538285T>A	ENST00000220676.1	+	4	1991	c.1843T>A	c.(1843-1845)Ttt>Att	p.F615I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	615					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)	p.F615I(1)		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)			TGCAACCCATTTTTCAAGTAA	0.373																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(1843-1845)TTT>ATT		retinitis pigmentosa RP1 protein							68.0	71.0	70.0					8																	55538285		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.chr8:55538285T>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.1843T>A	8.37:g.55538285T>A	ENSP00000220676:p.Phe615Ile					RP1_uc011ldy.1_Intron	p.F615I	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1991	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	615						Missense_Mutation	SNP	ENST00000220676.1	37	c.1843T>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	3.919	-0.018568	0.07681	.	.	ENSG00000104237	ENST00000220676	T	0.20332	2.08	5.39	-1.6	0.08426	.	1.093300	0.07015	N	0.825773	T	0.12689	0.0308	L	0.29908	0.895	0.09310	N	1	B	0.23806	0.091	B	0.19148	0.024	T	0.32903	-0.9889	10	0.54805	T	0.06	.	1.7729	0.03016	0.2676:0.1336:0.3828:0.2161	.	615	P56715	RP1_HUMAN	I	615	ENSP00000220676:F615I	ENSP00000220676:F615I	F	+	1	0	RP1	55700838	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.436000	0.06922	-0.537000	0.06290	0.482000	0.46254	TTT		PASS	0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	71	6	71	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61655054	61655054	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr8:61655054T>C	ENST00000423902.2	+	2	1542	c.1063T>C	c.(1063-1065)Tca>Cca	p.S355P	CHD7_ENST00000524602.1_Missense_Mutation_p.S355P|CHD7_ENST00000525508.1_Missense_Mutation_p.S355P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	355					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S355P(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGGATTCCCATCAAACAGTGG	0.438																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1063-1065)TCA>CCA		chromodomain helicase DNA binding protein 7							76.0	76.0	76.0					8																	61655054		2084	4214	6298	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61655054T>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1063T>C	8.37:g.61655054T>C	ENSP00000392028:p.Ser355Pro						p.S355P	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1540	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	355					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.1063T>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	T	3.325	-0.137941	0.06711	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	D;T;T	0.81821	-1.54;1.87;-1.15	5.67	4.52	0.55395	.	0.000000	0.35407	N	0.003221	T	0.67822	0.2934	L	0.27053	0.805	0.42323	D	0.992263	B	0.02656	0.0	B	0.01281	0.0	T	0.59762	-0.7393	10	0.20046	T	0.44	-2.2692	11.5655	0.50802	0.0:0.0697:0.0:0.9303	.	355	Q9P2D1	CHD7_HUMAN	P	355	ENSP00000392028:S355P;ENSP00000437061:S355P;ENSP00000436027:S355P	ENSP00000307304:S355P	S	+	1	0	CHD7	61817608	1.000000	0.71417	0.625000	0.29200	0.995000	0.86356	2.979000	0.49313	0.999000	0.39023	0.533000	0.62120	TCA		PASS	0.438	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		19	47	19	47	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77745601	77745601	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr8:77745601G>C	ENST00000521891.2	+	5	3801	c.3353G>C	c.(3352-3354)tGt>tCt	p.C1118S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.C1092S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.C1092S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.C1092S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1092					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)	p.C1118S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCAGGACTTGTGATGATGAT	0.423										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3274-3276)TGT>TCT		zinc finger homeodomain 4							103.0	99.0	100.0					8																	77745601		1969	4164	6133	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77745601G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3353G>C	8.37:g.77745601G>C	ENSP00000430497:p.Cys1118Ser	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.C1118S|ZFHX4_uc003yaw.1_Missense_Mutation_p.C1092S	p.C1092S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		5	3662	+			1092					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3275G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747222	0.30955	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.46819	0.86;0.92;0.9;0.88	4.73	4.73	0.59995	.	0.585252	0.14267	U	0.330384	T	0.26629	0.0651	N	0.08118	0	0.32912	D	0.514646	B;B;B	0.13594	0.005;0.008;0.008	B;B;B	0.16289	0.007;0.015;0.015	T	0.13710	-1.0499	10	0.09338	T	0.73	.	13.3883	0.60809	0.0:0.0:1.0:0.0	.	1092;1092;1118	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	1118;1118;1092;1092;1092	ENSP00000430497:C1118S;ENSP00000399605:C1092S;ENSP00000050961:C1092S;ENSP00000430848:C1092S	ENSP00000050961:C1092S	C	+	2	0	ZFHX4	77908156	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.044000	0.41241	2.631000	0.89168	0.655000	0.94253	TGT		PASS	0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	6	13	6	---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141716272	141716272	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr8:141716272G>A	ENST00000522684.1	-	24	2404	c.2175C>T	c.(2173-2175)tcC>tcT	p.S725S	PTK2_ENST00000340930.3_Silent_p.S725S|PTK2_ENST00000535192.1_Silent_p.S725S|PTK2_ENST00000430260.2_Silent_p.S35S|PTK2_ENST00000521059.1_Silent_p.S725S|PTK2_ENST00000517887.1_Silent_p.S769S|PTK2_ENST00000538769.1_Silent_p.S393S|PTK2_ENST00000395218.2_Silent_p.S725S|PTK2_ENST00000519419.1_Silent_p.S769S|PTK2_ENST00000519465.1_Silent_p.S353S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	725	Interaction with TGFB1I1.|Pro-rich.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.S747S(1)|p.S725S(1)|p.S677S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCCTTCGCTGGACCTCGGAC	0.403																																						uc003yvu.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(2173-2175)TCC>TCT		PTK2 protein tyrosine kinase 2 isoform a							121.0	118.0	119.0					8																	141716272		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141716272G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2175C>T	8.37:g.141716272G>A						PTK2_uc011ljp.1_Silent_p.S33S|PTK2_uc003yvo.2_Silent_p.S353S|PTK2_uc011ljq.1_Silent_p.S420S|PTK2_uc003yvp.2_Silent_p.S393S|PTK2_uc003yvq.2_Silent_p.S251S|PTK2_uc003yvr.2_Silent_p.S665S|PTK2_uc003yvs.2_Silent_p.S725S|PTK2_uc003yvt.2_Silent_p.S747S|PTK2_uc003yvv.2_Silent_p.S625S|PTK2_uc011ljr.1_Silent_p.S725S	p.S725S	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		24	2405	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	725			Pro-rich.|Interaction with TGFB1I1.		B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	c.2175C>T	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	9.289	1.050095	0.19827	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.66	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2783	0.43523	0.0704:0.0:0.7845:0.1451	.	.	.	.	X	736	.	.	Q	-	1	0	PTK2	141785454	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	1.379000	0.34340	1.313000	0.45069	0.555000	0.69702	CAG		PASS	0.403	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		27	27	27	27	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143623493	143623493	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr8:143623493C>T	ENST00000517894.1	+	28	4792	c.3898C>T	c.(3898-3900)Ccc>Tcc	p.P1300S	BAI1_ENST00000323289.5_Missense_Mutation_p.P1300S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1300					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P1300S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGGCCCCTGCCCGACTTCCC	0.652																																						uc003ywm.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(3898-3900)CCC>TCC		brain-specific angiogenesis inhibitor 1							37.0	43.0	41.0					8																	143623493		2026	4172	6198	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623493C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3898C>T	8.37:g.143623493C>T	ENSP00000430945:p.Pro1300Ser						p.P1300S	NM_001702	NP_001693	O14514	BAI1_HUMAN			27	4081	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1300			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000517894.1	37	c.3898C>T		.	.	.	.	.	.	.	.	.	.	c	6.582	0.475683	0.12521	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.25912	1.77;1.77	4.26	2.17	0.27698	.	1.028080	0.07735	U	0.945922	T	0.12263	0.0298	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.22312	-1.0220	10	0.22109	T	0.4	.	5.9452	0.19215	0.4126:0.3509:0.2365:0.0	.	1300	E9PBK0	.	S	1300	ENSP00000430945:P1300S;ENSP00000313046:P1300S	ENSP00000313046:P1300S	P	+	1	0	BAI1	143620495	0.256000	0.24012	0.999000	0.59377	0.948000	0.59901	0.295000	0.19065	1.910000	0.55303	0.586000	0.80456	CCC		PASS	0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		8	18	8	18	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145009237	145009237	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr8:145009237G>A	ENST00000322810.4	-	8	1347	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	PLEC_ENST00000398774.2_Missense_Mutation_p.S224L|PLEC_ENST00000345136.3_Missense_Mutation_p.S256L|PLEC_ENST00000436759.2_Missense_Mutation_p.S283L|PLEC_ENST00000527096.1_Missense_Mutation_p.S283L|PLEC_ENST00000356346.3_Missense_Mutation_p.S242L|PLEC_ENST00000357649.2_Missense_Mutation_p.S260L|PLEC_ENST00000354958.2_Missense_Mutation_p.S234L|PLEC_ENST00000354589.3_Missense_Mutation_p.S256L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	393	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.S393L(1)|p.S283L(1)|p.S256L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATACAGCGACGAGACGTAGGT	0.687																																						uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(1177-1179)TCG>TTG		plectin isoform 1							85.0	96.0	92.0					8																	145009237		2155	4243	6398	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145009237G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1178C>T	8.37:g.145009237G>A	ENSP00000323856:p.Ser393Leu					PLEC_uc003zab.1_Missense_Mutation_p.S256L|PLEC_uc003zac.1_Missense_Mutation_p.S260L|PLEC_uc003zad.2_Missense_Mutation_p.S256L|PLEC_uc003zae.1_Missense_Mutation_p.S224L|PLEC_uc003zag.1_Missense_Mutation_p.S234L|PLEC_uc003zah.2_Missense_Mutation_p.S242L|PLEC_uc003zaj.2_Missense_Mutation_p.S283L	p.S393L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			8	1348	-			393			CH 2.|Globular 1.|Actin-binding.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.1178C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	18.01	3.526704	0.64860	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;-3.55	4.59	4.59	0.56863	Calponin homology domain (5);	0.000000	0.56097	U	0.000021	D	0.97542	0.9195	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.98413	1.0573	10	0.87932	D	0	.	16.3236	0.82964	0.0:0.0:1.0:0.0	.	283;242;234;393;224;256;260;256	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	256;260;256;224;393;234;242;283;283;300	ENSP00000344848:S256L;ENSP00000350277:S260L;ENSP00000346602:S256L;ENSP00000381756:S224L;ENSP00000323856:S393L;ENSP00000347044:S234L;ENSP00000348702:S242L;ENSP00000388180:S283L;ENSP00000434583:S283L;ENSP00000437303:S300L	ENSP00000323856:S393L	S	-	2	0	PLEC	145081225	1.000000	0.71417	0.840000	0.33206	0.800000	0.45204	7.532000	0.81985	2.401000	0.81631	0.651000	0.88453	TCG		PASS	0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		34	57	34	57	---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	990681	990681	+	Silent	SNP	A	A	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:990681A>C	ENST00000190165.2	+	2	1133	c.1095A>C	c.(1093-1095)ccA>ccC	p.P365P		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	365					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P365P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCCCCAGCCACCCCGGTACC	0.597																																						uc003zgw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1093-1095)CCA>CCC		doublesex and mab-3 related transcription factor							49.0	49.0	49.0					9																	990681		2203	4300	6503	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990681A>C	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1095A>C	9.37:g.990681A>C							p.P365P	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1133	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	365					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.1095A>C	CCDS6443.1																																																																																				PASS	0.597	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		11	62	11	62	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971036	21971036	+	Missense_Mutation	SNP	C	C	A	rs121913381		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:21971036C>A	ENST00000304494.5	-	2	592	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R122L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	108			D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCAGGCATCGCGCACGTCC	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(36)|Deletion - Frameshift(5)	p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(160)|urinary_tract(97)|bone(74)|upper_aerodigestive_tract(62)|soft_tissue(57)|pleura(51)|oesophagus(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM071585|CM973278	CDKN2A	M	rs121913381	c.(322-324)GAT>TAT		cyclin-dependent kinase inhibitor 2A isoform 1							16.0	19.0	18.0					9																	21971036		2198	4292	6490	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971036C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.322G>T	9.37:g.21971036C>A	ENSP00000307101:p.Asp108Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163L	p.D108Y	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	534	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	108		D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.322G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308521|4.308521	0.81247|0.81247	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|T;T	0.94232|0.79845	-3.38;-3.38|-1.31;-1.25	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.000000	.|0.30428	.|N	.|0.009646	D|D	0.84678|0.84678	0.5525|0.5525	L|L	0.29908|0.29908	0.895|0.895	0.47308|0.47308	D|D	0.999383|0.999383	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.67548	1.0|0.952	D|D	0.85416|0.85416	0.1140|0.1140	9|10	0.87932|0.62326	D|D	0|0.03	-14.8146|-14.8146	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	108|163	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	Y|L	108|163;122	ENSP00000307101:D108Y;ENSP00000394932:D108Y|ENSP00000355153:R163L;ENSP00000432664:R122L	ENSP00000307101:D108Y|ENSP00000355153:R163L	D|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961036|21961036	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.627000|0.627000	0.37826|0.37826	5.136000|5.136000	0.64783|0.64783	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAT|CGA		PASS	0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		19	2	19	2	---	---	---	---
HIATL1	84641	broad.mit.edu	37	9	97207434	97207434	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:97207434G>A	ENST00000375344.3	+	6	968	c.699G>A	c.(697-699)caG>caA	p.Q233Q	HIATL1_ENST00000428393.2_Silent_p.Q168Q	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	233					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Q233Q(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				GGGGAGCTCAGATTTCTTGGA	0.423																																					Pancreas(77;1260 1915 1973 10423)	uc004aur.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(697-699)CAG>CAA		hippocampus abundant transcript-like 1							37.0	36.0	36.0					9																	97207434		2203	4300	6503	SO:0001819	synonymous_variant	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97207434G>A	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.699G>A	9.37:g.97207434G>A						HIATL1_uc011luh.1_Silent_p.Q168Q	p.Q233Q	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN			6	968	+		Acute lymphoblastic leukemia(62;0.136)	233			Extracellular (Potential).		B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Silent	SNP	ENST00000375344.3	37	c.699G>A	CCDS6710.2																																																																																				PASS	0.423	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		10	18	10	18	---	---	---	---
OR13C9	286362	broad.mit.edu	37	9	107379799	107379799	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:107379799G>C	ENST00000259362.1	-	1	686	c.687C>G	c.(685-687)caC>caG	p.H229Q		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H229Q(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CCTCAGAGGAGTGAATCTTGA	0.433																																						uc011lvr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)CAC>CAG		olfactory receptor, family 13, subfamily C,							79.0	75.0	77.0					9																	107379799		2202	4300	6502	SO:0001583	missense	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379799G>C		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.687C>G	9.37:g.107379799G>C	ENSP00000259362:p.His229Gln						p.H229Q	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			1	687	-			229			Cytoplasmic (Potential).		Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	c.687C>G	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	G	7.653	0.683410	0.14907	.	.	ENSG00000136839	ENST00000259362	T	0.35605	1.3	4.46	1.23	0.21249	GPCR, rhodopsin-like superfamily (1);	0.771429	0.11343	N	0.573876	T	0.19167	0.0460	N	0.17631	0.505	0.09310	N	1	B	0.14438	0.01	B	0.25759	0.063	T	0.34428	-0.9829	10	0.13853	T	0.58	.	3.1058	0.06341	0.2294:0.0:0.4237:0.347	.	229	Q8NGT0	O13C9_HUMAN	Q	229	ENSP00000259362:H229Q	ENSP00000259362:H229Q	H	-	3	2	OR13C9	106419620	0.000000	0.05858	0.138000	0.22173	0.946000	0.59487	-1.205000	0.03014	0.023000	0.15187	0.643000	0.83706	CAC		PASS	0.433	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			30	41	30	41	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109688263	109688263	+	Silent	SNP	G	G	A	rs147884090		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:109688263G>A	ENST00000277225.5	+	3	2359	c.2070G>A	c.(2068-2070)gtG>gtA	p.V690V	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.V690V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	690					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V690V(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGTCACCCGTGAAGAAGAGAA	0.433																																						uc004bcz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(2068-2070)GTG>GTA		zinc finger protein 462		G		1,4405	2.1+/-5.4	0,1,2202	193.0	191.0	192.0		2070	4.0	1.0	9	dbSNP_134	192	0,8600		0,0,4300	no	coding-synonymous	ZNF462	NM_021224.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		690/2507	109688263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688263G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2070G>A	9.37:g.109688263G>A						ZNF462_uc010mto.2_Silent_p.V538V|ZNF462_uc004bda.2_Silent_p.V538V	p.V690V	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	2359	+			690					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.2070G>A	CCDS35096.1																																																																																				PASS	0.433	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		61	93	61	93	---	---	---	---
C9orf91	203197	broad.mit.edu	37	9	117400911	117400911	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:117400911G>A	ENST00000288502.4	+	8	1191	c.754G>A	c.(754-756)Gag>Aag	p.E252K	C9orf91_ENST00000374049.4_Missense_Mutation_p.E253K			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	252						integral component of membrane (GO:0016021)		p.E252K(1)		endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TGAGAACTTGGAGGATGCTCC	0.557																																						uc004bjd.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(754-756)GAG>AAG		hypothetical protein LOC203197							134.0	117.0	123.0					9																	117400911		2203	4300	6503	SO:0001583	missense	203197					integral to membrane		g.chr9:117400911G>A	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.754G>A	9.37:g.117400911G>A	ENSP00000288502:p.Glu252Lys					C9orf91_uc004bje.3_Missense_Mutation_p.E231K|C9orf91_uc004bjf.3_Missense_Mutation_p.E151K	p.E252K	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN			8	971	+			252					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	ENST00000288502.4	37	c.754G>A	CCDS6808.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287086	0.95517	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.62723	1.935	0.47994	D	0.999564	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.77395	-0.2604	9	0.66056	D	0.02	-16.2862	16.0471	0.80727	0.0:0.0:1.0:0.0	.	231;252	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	K	253;252	.	ENSP00000288502:E252K	E	+	1	0	C9orf91	116440732	1.000000	0.71417	0.961000	0.40146	0.976000	0.68499	4.848000	0.62874	2.850000	0.98022	0.650000	0.86243	GAG		PASS	0.557	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		23	28	23	28	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117827085	117827085	+	Missense_Mutation	SNP	C	C	T	rs141417605		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:117827085C>T	ENST00000350763.4	-	11	3739	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K	TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.E1110K|TNC_ENST00000341037.4_Missense_Mutation_p.E1110K|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1110	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.E1110K(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTGTTGGCCTCCTGCACCTGA	0.592																																						uc004bjj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(3328-3330)GAG>AAG		tenascin C precursor		C	LYS/GLU	0,4406		0,0,2203	114.0	96.0	102.0		3328	5.5	1.0	9	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNC	NM_002160.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1110/2202	117827085	1,13005	2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117827085C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3328G>A	9.37:g.117827085C>T	ENSP00000265131:p.Glu1110Lys					TNC_uc010mvf.2_Missense_Mutation_p.E1110K	p.E1110K	NM_002160	NP_002151	P24821	TENA_HUMAN			11	3690	-			1110			Fibronectin type-III 6.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.3328G>A	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.253217|3.253217	0.59212|0.59212	0.0|0.0	1.16E-4|1.16E-4	ENSG00000041982|ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613|ENST00000544972	T;T;T|.	0.57595|.	0.39;0.39;0.39|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.066418|.	0.56097|.	D|.	0.000022|.	T|T	0.78317|0.78317	0.4264|0.4264	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	P;P|.	0.46064|.	0.763;0.872|.	B;P|.	0.52031|.	0.403;0.688|.	T|T	0.78132|0.78132	-0.2323|-0.2323	10|5	0.40728|.	T|.	0.16|.	.|.	19.3299|19.3299	0.94281|0.94281	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1110;1110|.	E9PC84;P24821|.	.;TENA_HUMAN|.	K|E	1110|36	ENSP00000265131:E1110K;ENSP00000339553:E1110K;ENSP00000411406:E1110K|.	ENSP00000339553:E1110K|.	E|G	-|-	1|2	0|0	TNC|TNC	116866906|116866906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.571000|0.571000	0.35966|0.35966	2.743000|2.743000	0.47442|0.47442	2.583000|2.583000	0.87209|0.87209	0.655000|0.655000	0.94253|0.94253	GAG|GGA		PASS	0.592	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		17	70	17	70	---	---	---	---
RABEPK	10244	broad.mit.edu	37	9	127995969	127995969	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:127995969G>C	ENST00000373538.3	+	8	1139	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.E277Q|RABEPK_ENST00000259460.8_Missense_Mutation_p.E226Q	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	277					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.E277Q(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CAACATAGAAGAGCAGCATTG	0.502																																						uc004bpi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(829-831)GAG>CAG		Rab9 effector protein with kelch motifs							182.0	167.0	172.0					9																	127995969		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127995969G>C	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.829G>C	9.37:g.127995969G>C	ENSP00000362639:p.Glu277Gln					RABEPK_uc004bpj.2_Missense_Mutation_p.E226Q|RABEPK_uc004bpk.2_Missense_Mutation_p.E277Q|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.E277Q	p.E277Q	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN			9	1002	+			277			Kelch 5.		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.829G>C	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424763	0.25639	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.78924	-1.22;-1.22;-1.22	5.68	4.54	0.55810	Kelch-type beta propeller (1);	0.368747	0.32357	N	0.006211	T	0.66107	0.2756	L	0.34521	1.04	0.80722	D	1	B;B	0.15141	0.011;0.012	B;B	0.21917	0.004;0.037	T	0.57608	-0.7782	10	0.24483	T	0.36	-7.7405	9.6238	0.39739	0.8534:0.0:0.1466:0.0	.	226;277	Q7Z6M1-2;Q7Z6M1	.;RABEK_HUMAN	Q	277;226;277	ENSP00000377683:E277Q;ENSP00000259460:E226Q;ENSP00000362639:E277Q	ENSP00000259460:E226Q	E	+	1	0	RABEPK	127035790	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	2.815000	0.48018	0.982000	0.38575	-0.247000	0.11927	GAG		PASS	0.502	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		73	118	73	118	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133927932	133927932	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:133927932T>C	ENST00000361069.4	+	10	1818	c.1685T>C	c.(1684-1686)tTc>tCc	p.F562S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	562	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.F562S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ATACTGACCTTCCGGGTGCCC	0.597											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004caa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1684-1686)TTC>TCC		laminin, gamma 3 precursor							66.0	74.0	71.0					9																	133927932		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133927932T>C	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1685T>C	9.37:g.133927932T>C	ENSP00000354360:p.Phe562Ser		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606		p.F562S	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	10	1783	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	562			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1685T>C	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.381999	0.61845	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.38077	1.16	5.38	5.38	0.77491	Laminin B type IV (2);	0.153973	0.64402	D	0.000015	T	0.60143	0.2246	M	0.78049	2.395	0.42665	D	0.99349	D	0.57257	0.979	D	0.67725	0.953	T	0.66097	-0.6008	10	0.87932	D	0	.	14.2744	0.66170	0.0:0.0:0.0:1.0	.	562	Q9Y6N6	LAMC3_HUMAN	S	562	ENSP00000354360:F562S	ENSP00000347156:F562S	F	+	2	0	LAMC3	132917753	1.000000	0.71417	0.843000	0.33291	0.123000	0.20343	7.353000	0.79414	2.050000	0.60909	0.454000	0.30748	TTC		PASS	0.597	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		5	65	5	65	---	---	---	---
PMPCA	23203	broad.mit.edu	37	9	139311436	139311436	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:139311436C>T	ENST00000371717.3	+	7	676	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R92C	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	223					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R223C(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGGCCTCCACCGTTTCTGCCC	0.562																																						uc004chl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)CGT>TGT		peptidase (mitochondrial processing) alpha							67.0	47.0	54.0					9																	139311436		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139311436C>T	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.667C>T	9.37:g.139311436C>T	ENSP00000360782:p.Arg223Cys					PMPCA_uc010nbl.2_Missense_Mutation_p.R123C|PMPCA_uc011mdz.1_Missense_Mutation_p.R92C|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	p.R223C	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	7	672	+		Myeloproliferative disorder(178;0.0821)	223					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.667C>T	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401072	0.83120	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.17213	2.29;2.29	5.81	5.81	0.92471	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.71414	0.935;0.973;0.973	T	0.00972	-1.1495	10	0.72032	D	0.01	.	12.629	0.56646	0.2597:0.7403:0.0:0.0	.	92;223;223	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	C	223;92	ENSP00000360782:R223C;ENSP00000416702:R92C	ENSP00000360782:R223C	R	+	1	0	PMPCA	138431257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.746000	0.55127	2.740000	0.93945	0.609000	0.83330	CGT		PASS	0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		10	11	10	11	---	---	---	---
ENTPD2	954	broad.mit.edu	37	9	139946697	139946697	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:139946697G>C	ENST00000355097.2	-	2	268	c.221C>G	c.(220-222)tCc>tGc	p.S74C	ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000312665.5_Missense_Mutation_p.S74C	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	74					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.S74C(1)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AACATCACAGGAGCTGTGCTG	0.607																																						uc004ckw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)TCC>TGC		ectonucleoside triphosphate diphosphohydrolase 2							115.0	101.0	106.0					9																	139946697		2202	4300	6502	SO:0001583	missense	954					integral to membrane	ATP binding	g.chr9:139946697G>C	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.221C>G	9.37:g.139946697G>C	ENSP00000347213:p.Ser74Cys					ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Missense_Mutation_p.S74C	p.S74C	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	2	277	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	74			Extracellular (Potential).		O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	c.221C>G	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063363	0.36373	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.12147	2.71;2.71	4.23	2.36	0.29203	.	0.429842	0.24859	N	0.035022	T	0.28433	0.0703	M	0.74467	2.265	0.27643	N	0.947664	D;D	0.71674	0.998;0.997	D;P	0.65573	0.936;0.866	T	0.03945	-1.0990	10	0.66056	D	0.02	-23.9085	4.6636	0.12655	0.4159:0.0:0.5841:0.0	.	74;74	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	C	74	ENSP00000347213:S74C;ENSP00000312494:S74C	ENSP00000312494:S74C	S	-	2	0	ENTPD2	139066518	0.115000	0.22152	0.998000	0.56505	0.386000	0.30323	0.776000	0.26704	1.134000	0.42165	0.462000	0.41574	TCC		PASS	0.607	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		37	32	37	32	---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140437924	140437924	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:140437924G>A	ENST00000277531.4	-	5	577	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Missense_Mutation_p.H156Y	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	131					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.H131Y(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GATGGCAGGTGAGAATTCTTC	0.612																																						uc004cnf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(391-393)CAC>TAC		patatin-like phospholipase domain containing 7							62.0	66.0	65.0					9																	140437924		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140437924G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.391C>T	9.37:g.140437924G>A	ENSP00000277531:p.His131Tyr					PNPLA7_uc010ncj.1_Missense_Mutation_p.H156Y	p.H131Y	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	5	728	-	all_cancers(76;0.126)		131					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.391C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677188	0.68042	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	T;T;T	0.59906	0.24;0.23;0.24	4.19	4.19	0.49359	RmlC-like jelly roll fold (1);	0.297217	0.35936	N	0.002895	T	0.64494	0.2603	M	0.68952	2.095	0.80722	D	1	P;D	0.55605	0.817;0.972	P;P	0.49829	0.447;0.623	T	0.70077	-0.4971	10	0.52906	T	0.07	-17.1078	15.8635	0.79043	0.0:0.0:1.0:0.0	.	156;131	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	Y	131;156;131;122;156	ENSP00000277531:H131Y;ENSP00000384610:H156Y;ENSP00000400582:H122Y	ENSP00000277531:H131Y	H	-	1	0	PNPLA7	139557745	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	2.862000	0.48388	2.042000	0.60477	0.563000	0.77884	CAC		PASS	0.612	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		34	42	34	42	---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140611570	140611570	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr9:140611570C>A	ENST00000460843.1	+	3	605	c.578C>A	c.(577-579)gCc>gAc	p.A193D	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.A162D|EHMT1_ENST00000462484.1_Missense_Mutation_p.A193D	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	193					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.A162D(1)|p.A193D(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AAGCTCCCGGCCCCTGGCGCC	0.622																																						uc011mfc.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|pancreas(1)	3						c.(577-579)GCC>GAC		euchromatic histone-lysine N-methyltransferase 1							26.0	31.0	29.0					9																	140611570		2185	4245	6430	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140611570C>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.578C>A	9.37:g.140611570C>A	ENSP00000417980:p.Ala193Asp					EHMT1_uc004coa.2_Missense_Mutation_p.A193D|EHMT1_uc004cob.1_Missense_Mutation_p.A162D	p.A193D	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	3	615	+	all_cancers(76;0.164)		193					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.578C>A	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	c	13.36	2.212769	0.39102	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.71698	1.52;0.74;-0.59	5.82	1.84	0.25277	.	0.611325	0.17616	N	0.167889	T	0.72510	0.3469	L	0.57536	1.79	0.09310	N	1	P;D;P	0.54772	0.905;0.968;0.9	P;P;P	0.54372	0.47;0.75;0.65	T	0.61964	-0.6954	10	0.37606	T	0.19	.	8.9281	0.35652	0.0:0.5308:0.3424:0.1269	.	193;162;193	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	D	162;162;193;193	ENSP00000334476:A162D;ENSP00000417328:A193D;ENSP00000417980:A193D	ENSP00000334476:A162D	A	+	2	0	EHMT1	139731391	0.005000	0.15991	0.000000	0.03702	0.033000	0.12548	1.019000	0.30014	0.081000	0.16988	0.639000	0.83563	GCC		PASS	0.622	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		13	39	13	39	---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1405757	1405757	+	Silent	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr10:1405757C>A	ENST00000381312.1	-	3	868	c.543G>T	c.(541-543)gcG>gcT	p.A181A	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	181	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A181A(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCAGCTCCGCCGCGCGCATCT	0.716																																						uc009xhq.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(541-543)GCG>GCT		adenosine deaminase, RNA-specific, B2							37.0	33.0	35.0					10																	1405757		2203	4300	6503	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405757C>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.543G>T	10.37:g.1405757C>A							p.A181A	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	917	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	181			DRBM 1.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.543G>T	CCDS7058.1																																																																																				PASS	0.716	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		12	2	12	2	---	---	---	---
USP6NL	9712	broad.mit.edu	37	10	11504812	11504812	+	Silent	SNP	A	A	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr10:11504812A>T	ENST00000609104.1	-	15	2509	c.2115T>A	c.(2113-2115)acT>acA	p.T705T	USP6NL_ENST00000379237.2_Silent_p.T728T|USP6NL_ENST00000277575.5_Silent_p.T722T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	705					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.T722T(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCCAGCACCAGTGTCAACAG	0.493																																						uc001ikt.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2113-2115)ACT>ACA		USP6 N-terminal like isoform 1							45.0	44.0	44.0					10																	11504812		1873	4111	5984	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11504812A>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2115T>A	10.37:g.11504812A>T						USP6NL_uc001iks.1_Silent_p.T722T	p.T705T	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	2436	-			705					A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.2115T>A	CCDS53492.1																																																																																				PASS	0.493	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		8	7	8	7	---	---	---	---
ABI1	10006	broad.mit.edu	37	10	27040691	27040691	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr10:27040691G>A	ENST00000376142.2	-	11	1258	c.1187C>T	c.(1186-1188)cCg>cTg	p.P396L	ABI1_ENST00000536334.1_Missense_Mutation_p.P282L|ABI1_ENST00000376139.2_Missense_Mutation_p.P364L|ABI1_ENST00000376134.3_Missense_Mutation_p.P370L|ABI1_ENST00000359188.4_Missense_Mutation_p.P368L|ABI1_ENST00000376166.1_Missense_Mutation_p.P334L|ABI1_ENST00000376160.1_Missense_Mutation_p.P363L|ABI1_ENST00000376138.3_Missense_Mutation_p.P340L|ABI1_ENST00000376137.4_Missense_Mutation_p.P311L|ABI1_ENST00000346832.5_Missense_Mutation_p.P384L|ABI1_ENST00000355394.4_Missense_Mutation_p.P397L|ABI1_ENST00000376140.3_Missense_Mutation_p.P369L|ABI1_ENST00000376170.4_Missense_Mutation_p.P339L|ABI1_ENST00000490841.2_Missense_Mutation_p.P217L	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	396	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)	p.P396L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGTGGTGGCGGTGGAGTTGG	0.418																																						uc001isx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1186-1188)CCG>CTG		abl-interactor 1 isoform a							110.0	123.0	118.0					10																	27040691		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27040691G>A	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.1187C>T	10.37:g.27040691G>A	ENSP00000365312:p.Pro396Leu					ABI1_uc001ite.2_Missense_Mutation_p.P334L|ABI1_uc010qdh.1_Missense_Mutation_p.P276L|ABI1_uc010qdi.1_Missense_Mutation_p.P217L|ABI1_uc001isy.2_Missense_Mutation_p.P369L|ABI1_uc001ita.2_Missense_Mutation_p.P340L|ABI1_uc001isz.2_Missense_Mutation_p.P364L|ABI1_uc001itb.2_Missense_Mutation_p.P384L|ABI1_uc001itc.2_Missense_Mutation_p.P368L|ABI1_uc010qdj.1_Missense_Mutation_p.P310L|ABI1_uc001itd.2_Missense_Mutation_p.P339L|ABI1_uc010qdk.1_Missense_Mutation_p.P281L|ABI1_uc010qdg.1_Missense_Mutation_p.P206L	p.P396L	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN			11	1354	-			396			Pro-rich.		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.1187C>T	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458871	0.84317	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376137;ENST00000536334;ENST00000490841;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	2.39;2.39;2.39;0.84;0.85;0.83;0.85;0.95;2.39;0.74;1.02;2.39;0.99;0.83	5.18	5.18	0.71444	Src homology-3 domain (1);	0.364846	0.35291	N	0.003310	T	0.70745	0.3259	M	0.80982	2.52	0.80722	D	1	B;B;B;B;D;D;D;D;D;P;D;D;D	0.89917	0.014;0.014;0.027;0.025;0.998;0.99;0.992;0.997;0.995;0.912;0.967;0.998;1.0	B;B;B;B;P;P;P;P;P;B;P;P;D	0.91635	0.002;0.002;0.002;0.004;0.75;0.657;0.537;0.86;0.883;0.239;0.778;0.903;0.999	T	0.68655	-0.5351	10	0.30078	T	0.28	-0.0892	19.0385	0.92989	0.0:0.0:1.0:0.0	.	281;310;217;276;206;334;364;368;384;340;364;369;396	B6VEX4;B6VEX3;B4DQ58;Q8IZP0-10;B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;.;.;.;.;ABI1_HUMAN	L	340;339;334;363;396;368;364;397;384;370;311;282;217;369	ENSP00000365308:P340L;ENSP00000365340:P339L;ENSP00000365336:P334L;ENSP00000365330:P363L;ENSP00000365312:P396L;ENSP00000352114:P368L;ENSP00000365309:P364L;ENSP00000347555:P397L;ENSP00000279599:P384L;ENSP00000365304:P370L;ENSP00000365307:P311L;ENSP00000439646:P282L;ENSP00000440101:P217L;ENSP00000365310:P369L	ENSP00000279599:P384L	P	-	2	0	ABI1	27080697	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	9.672000	0.98629	2.572000	0.86782	0.563000	0.77884	CCG		PASS	0.418	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470		4	5	4	5	---	---	---	---
ZNF37A	7587	broad.mit.edu	37	10	38403713	38403713	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr10:38403713G>T	ENST00000361085.5	+	5	391	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C	ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000351773.3_Missense_Mutation_p.G16C	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)	p.G16C(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TGTGACTGTGGGCTTCACTCA	0.478																																						uc001izk.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(46-48)GGC>TGC		zinc finger protein 37a							142.0	132.0	135.0					10																	38403713		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38403713G>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.46G>T	10.37:g.38403713G>T	ENSP00000354377:p.Gly16Cys					ZNF37A_uc001izl.2_Missense_Mutation_p.G16C|ZNF37A_uc001izm.2_Missense_Mutation_p.G16C	p.G16C	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			6	865	+			16			KRAB.		B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.46G>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	9.932	1.214999	0.22373	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.01599	4.74;4.74	2.56	0.52	0.17040	Krueppel-associated box (4);	.	.	.	.	T	0.01835	0.0058	L	0.36672	1.1	0.20403	N	0.999901	D	0.54397	0.966	P	0.44647	0.456	T	0.47611	-0.9104	9	0.87932	D	0	.	1.3386	0.02150	0.1397:0.2172:0.422:0.2212	.	16	P17032	ZN37A_HUMAN	C	16	ENSP00000329141:G16C;ENSP00000354377:G16C	ENSP00000329141:G16C	G	+	1	0	ZNF37A	38443719	0.992000	0.36948	0.199000	0.23439	0.336000	0.28762	0.534000	0.23098	-0.006000	0.14370	-0.499000	0.04595	GGC		PASS	0.478	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		37	37	37	37	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43088334	43088334	+	Silent	SNP	C	C	G	rs149979023		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr10:43088334C>G	ENST00000359467.3	-	5	2178	c.2064G>C	c.(2062-2064)acG>acC	p.T688T	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	688					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)	p.T688T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GTTTCTCCCCCGTGTGCTTTC	0.408																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2062-2064)ACG>ACC		zinc finger protein 33B							126.0	121.0	123.0					10																	43088334		2203	4300	6503	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088334C>G	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2064G>C	10.37:g.43088334C>G						ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.T576T|ZNF33B_uc001jad.2_Intron	p.T688T	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	2179	-			688					Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.2064G>C	CCDS7198.1																																																																																				PASS	0.408	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		20	80	20	80	---	---	---	---
SLIT1	6585	broad.mit.edu	37	10	98823308	98823308	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr10:98823308G>C	ENST00000266058.4	-	8	942	c.697C>G	c.(697-699)Cgg>Ggg	p.R233G	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R233G|SLIT1_ENST00000371041.3_Missense_Mutation_p.R233G	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	233	LRRCT 1.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R233G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ATGGTTGGCCGCTGCCTCAGC	0.632																																						uc001kmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(697-699)CGG>GGG		slit homolog 1 precursor							23.0	24.0	24.0					10																	98823308		2203	4299	6502	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98823308G>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.697C>G	10.37:g.98823308G>C	ENSP00000266058:p.Arg233Gly					SLIT1_uc009xvh.1_Missense_Mutation_p.R233G	p.R233G	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	8	949	-		Colorectal(252;0.162)	233			LRRCT 1.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.697C>G	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474277	0.63737	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	D;D;T;T	0.81821	-1.53;-1.54;0.42;4.3	4.33	3.31	0.37934	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87649	0.6230	M	0.69523	2.12	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.984;0.997	D	0.87045	0.2143	10	0.49607	T	0.09	.	12.7248	0.57164	0.0:0.0:0.7871:0.2129	.	233;233	E7EWQ8;O75093	.;SLIT1_HUMAN	G	233;233;209;233;216;209;233	ENSP00000266058:R233G;ENSP00000360109:R233G;ENSP00000315005:R216G;ENSP00000360080:R233G	ENSP00000266058:R233G	R	-	1	2	SLIT1	98813298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.956000	0.40382	0.798000	0.33994	0.549000	0.68633	CGG		PASS	0.632	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		12	1	12	1	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108448054	108448054	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr10:108448054C>A	ENST00000263054.6	-	10	1463	c.1456G>T	c.(1456-1458)Gac>Tac	p.D486Y	SORCS1_ENST00000344440.6_Missense_Mutation_p.D486Y|SORCS1_ENST00000369698.1_Missense_Mutation_p.D21Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	486					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.D486Y(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACTTGGTTGTCAATCTTCTTG	0.448																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1456-1458)GAC>TAC		SORCS receptor 1 isoform a							100.0	89.0	93.0					10																	108448054		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108448054C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1456G>T	10.37:g.108448054C>A	ENSP00000263054:p.Asp486Tyr					SORCS1_uc001kyl.2_Missense_Mutation_p.D486Y|SORCS1_uc009xxs.2_Missense_Mutation_p.D486Y|SORCS1_uc001kyn.1_Missense_Mutation_p.D486Y|SORCS1_uc001kyo.2_Missense_Mutation_p.D486Y	p.D486Y	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	10	1464	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	486			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1456G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316706	0.81469	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.44083	0.93;0.93;0.93	6.17	6.17	0.99709	VPS10 (1);	0.106561	0.64402	D	0.000005	T	0.70954	0.3283	M	0.86268	2.805	0.58432	D	0.999994	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.76071	0.971;0.987;0.987;0.971;0.987	T	0.70799	-0.4774	9	.	.	.	-26.5931	20.8794	0.99867	0.0:1.0:0.0:0.0	.	486;486;486;486;486	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Y	21;486;486	ENSP00000358712:D21Y;ENSP00000263054:D486Y;ENSP00000345964:D486Y	.	D	-	1	0	SORCS1	108438044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.661000	0.68025	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.448	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		24	6	24	6	---	---	---	---
CHID1	66005	broad.mit.edu	37	11	904721	904721	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:904721C>A	ENST00000449825.1	-	2	452	c.96G>T	c.(94-96)aaG>aaT	p.K32N	CHID1_ENST00000454838.2_Missense_Mutation_p.K32N|CHID1_ENST00000323541.7_Missense_Mutation_p.K62N|CHID1_ENST00000528581.1_Missense_Mutation_p.K32N|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000436108.2_Missense_Mutation_p.K32N|CHID1_ENST00000429789.2_Missense_Mutation_p.K32N|CHID1_ENST00000323578.8_Missense_Mutation_p.K32N|CHID1_ENST00000336845.5_Missense_Mutation_p.K32N	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	32					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)	p.K32N(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCAGCAGCGTCTTTGAGGCGG	0.567																																					Pancreas(117;992 2327 5172 41921)	uc001lsl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)AAG>AAT		chitinase domain containing 1 isoform a							161.0	139.0	147.0					11																	904721		2203	4299	6502	SO:0001583	missense	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:904721C>A	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.96G>T	11.37:g.904721C>A	ENSP00000391255:p.Lys32Asn					CHID1_uc010qwu.1_Missense_Mutation_p.K62N|CHID1_uc010qwv.1_Missense_Mutation_p.K93N|CHID1_uc001lsn.2_Missense_Mutation_p.K32N|CHID1_uc001lsm.2_Missense_Mutation_p.K32N|CHID1_uc001lso.2_Missense_Mutation_p.K32N|CHID1_uc001lsp.2_Missense_Mutation_p.K32N|CHID1_uc010qww.1_Missense_Mutation_p.K32N	p.K32N	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	2	257	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	32					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	c.96G>T	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855988	0.51376	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859;ENST00000533056;ENST00000533059;ENST00000530939;ENST00000525225;ENST00000525840	T;T;T;T;T;T;T;T	0.45276	1.16;1.22;0.9;1.22;1.19;0.9;0.9;1.22	3.16	2.21	0.28008	.	0.185912	0.47852	D	0.000206	T	0.54175	0.1842	M	0.68952	2.095	0.41008	D	0.984981	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.85130	0.994;0.994;0.997;0.963;0.994	T	0.53027	-0.8496	10	0.45353	T	0.12	-31.9887	4.7188	0.12909	0.0:0.7001:0.0:0.2999	.	93;62;32;32;32	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	N	62;32;32;32;32;32;32;32;32;32;32;32;32;32	ENSP00000324821:K62N;ENSP00000391255:K32N;ENSP00000398722:K32N;ENSP00000325055:K32N;ENSP00000416034:K32N;ENSP00000435503:K32N;ENSP00000338838:K32N;ENSP00000388156:K32N	ENSP00000324821:K62N	K	-	3	2	CHID1	894721	0.997000	0.39634	0.962000	0.40283	0.978000	0.69477	1.117000	0.31234	0.863000	0.35553	0.561000	0.74099	AAG		PASS	0.567	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		26	7	26	7	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1265993	1265993	+	Missense_Mutation	SNP	G	G	T	rs201153963		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:1265993G>T	ENST00000529681.1	+	31	7941	c.7883G>T	c.(7882-7884)cGc>cTc	p.R2628L	MUC5B_ENST00000447027.1_Missense_Mutation_p.R2631L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2628	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.R2607L(1)|p.R2628L(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACGGCACGCACGCTTCCA	0.642																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(9796-9798)CGC>CTC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							149.0	180.0	170.0					11																	1265993		2125	4235	6360	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265993G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7883G>T	11.37:g.1265993G>T	ENSP00000436812:p.Arg2628Leu					MUC5B_uc001ltb.2_Missense_Mutation_p.R2631L	p.R3266L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	9923	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2628	Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.9797G>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	2.008	-0.427670	0.04701	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.21361	2.01;2.19	1.76	-3.52	0.04682	.	.	.	.	.	T	0.12603	0.0306	N	0.22421	0.69	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.016	T	0.16928	-1.0386	9	0.87932	D	0	.	7.5674	0.27887	0.2069:0.5233:0.2698:0.0	.	3266;2631	A7Y9J9;E9PBJ0	.;.	L	2628;2631;2600;2643;169	ENSP00000436812:R2628L;ENSP00000415793:R2631L	ENSP00000343037:R2600L	R	+	2	0	MUC5B	1222569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.538000	0.00938	-2.557000	0.00476	-1.038000	0.02383	CGC		PASS	0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	63	4	63	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1265997	1265997	+	Silent	SNP	G	G	T	rs551355085	byFrequency	TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:1265997G>T	ENST00000529681.1	+	31	7945	c.7887G>T	c.(7885-7887)acG>acT	p.T2629T	MUC5B_ENST00000447027.1_Silent_p.T2632T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2629	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2608T(1)|p.T2629T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCACGCACGCTTCCAGTGT	0.637													g|||	8	0.00159744	0.0008	0.0	5008	,	,		18864	0.0		0.006	False		,,,				2504	0.001					uc009ycr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(9799-9801)ACG>ACT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							147.0	178.0	168.0					11																	1265997		2123	4233	6356	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265997G>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7887G>T	11.37:g.1265997G>T						MUC5B_uc001ltb.2_Silent_p.T2632T	p.T3267T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	9927	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2629	Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9801G>T	CCDS44515.2																																																																																				PASS	0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	56	4	56	---	---	---	---
RNF141	50862	broad.mit.edu	37	11	10546918	10546918	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:10546918A>C	ENST00000265981.2	-	4	397	c.255T>G	c.(253-255)atT>atG	p.I85M	RNF141_ENST00000528665.1_Missense_Mutation_p.I85M	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	85					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I85M(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		TGCTTTTGTTAATCTAAAAAT	0.338																																					Ovarian(8;377 410 25844 26058 41491)	uc001mis.1																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)ATT>ATG		ring finger protein 141							51.0	51.0	51.0					11																	10546918		2201	4294	6495	SO:0001583	missense	50862						zinc ion binding	g.chr11:10546918A>C	AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"""RING-type (C3HC4) zinc fingers"""	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.255T>G	11.37:g.10546918A>C	ENSP00000265981:p.Ile85Met					RNF141_uc009yga.1_RNA|RNF141_uc001mit.1_Missense_Mutation_p.I85M	p.I85M	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN		all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)	4	408	-			85					A8K149|Q9NZB4	Missense_Mutation	SNP	ENST00000265981.2	37	c.255T>G	CCDS7803.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717428	0.68844	.	.	ENSG00000110315	ENST00000265981;ENST00000528665;ENST00000533412	T	0.72615	-0.67	5.95	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	M	0.64997	1.995	0.80722	D	1	B	0.25312	0.123	B	0.17979	0.02	T	0.59359	-0.7469	10	0.87932	D	0	-17.2085	1.263	0.02005	0.546:0.1247:0.15:0.1792	.	85	Q8WVD5	RN141_HUMAN	M	85	ENSP00000265981:I85M	ENSP00000265981:I85M	I	-	3	3	RNF141	10503494	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.449000	0.35123	0.482000	0.27582	0.528000	0.53228	ATT		PASS	0.338	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385888.1	NM_016422		4	19	4	19	---	---	---	---
DBX1	120237	broad.mit.edu	37	11	20181580	20181580	+	Silent	SNP	A	A	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:20181580A>C	ENST00000524983.2	-	1	579	c.291T>G	c.(289-291)acT>acG	p.T97T	DBX1_ENST00000227256.3_Silent_p.T97T			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	97					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T97T(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGGAGAAGGCAGTCGGCGGAG	0.706																																						uc001mpw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(289-291)ACT>ACG		developing brain homeobox 1							18.0	18.0	18.0					11																	20181580		2203	4300	6503	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20181580A>C			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.291T>G	11.37:g.20181580A>C							p.T97T	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN			1	291	-			97						Silent	SNP	ENST00000524983.2	37	c.291T>G																																																																																					PASS	0.706	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		3	1	3	1	---	---	---	---
CRY2	1408	broad.mit.edu	37	11	45891638	45891638	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:45891638G>T	ENST00000443527.2	+	8	1314	c.1292G>T	c.(1291-1293)aGc>aTc	p.S431I	CRY2_ENST00000417225.2_Missense_Mutation_p.S349I	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	410	Required for inhibition of CLOCK-ARNTL- mediated transcription. {ECO:0000250}.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.S410I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCAGATTTCAGCGTGAACGCA	0.562																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	uc010rgn.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1291-1293)AGC>ATC		cryptochrome 2 (photolyase-like) isoform 1							116.0	108.0	111.0					11																	45891638		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45891638G>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1292G>T	11.37:g.45891638G>T	ENSP00000406751:p.Ser431Ile					CRY2_uc009ykw.2_Missense_Mutation_p.S349I|CRY2_uc010rgo.1_Missense_Mutation_p.S153I	p.S431I	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN			8	1314	+			410			FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1292G>T	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748395	0.89663	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.66	5.66	0.87406	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.85932	0.5812	M	0.90595	3.13	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.995	D;D;D	0.77004	0.989;0.989;0.981	D	0.88189	0.2876	9	0.87932	D	0	-28.4417	19.7617	0.96321	0.0:0.0:1.0:0.0	.	410;431;349	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	I	349;431	.	ENSP00000397419:S349I	S	+	2	0	CRY2	45848214	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.869000	0.99810	2.671000	0.90904	0.655000	0.94253	AGC		PASS	0.562	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		3	51	3	51	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418397	55418397	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:55418397C>A	ENST00000312422.2	+	1	18	c.18C>A	c.(16-18)aaC>aaA	p.N6K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N6K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAATAAACAACGTAACTGAAT	0.313																																						uc001nhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(16-18)AAC>AAA		olfactory receptor, family 4, subfamily S,							52.0	48.0	49.0					11																	55418397		2176	4002	6178	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418397C>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.18C>A	11.37:g.55418397C>A	ENSP00000310337:p.Asn6Lys						p.N6K	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	18	+		all_epithelial(135;0.0748)	6			Extracellular (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.18C>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020091	0.35606	.	.	ENSG00000174982	ENST00000312422	T	0.19250	2.16	5.05	-3.22	0.05125	.	0.000000	0.56097	D	0.000038	T	0.23210	0.0561	L	0.33137	0.985	0.09310	N	1	D	0.65815	0.995	P	0.59487	0.858	T	0.13791	-1.0496	10	0.87932	D	0	.	8.7164	0.34414	0.0:0.5542:0.1375:0.3083	.	6	Q8NH73	OR4S2_HUMAN	K	6	ENSP00000310337:N6K	ENSP00000310337:N6K	N	+	3	2	OR4S2	55174973	0.000000	0.05858	0.706000	0.30403	0.430000	0.31655	-3.219000	0.00553	-0.269000	0.09298	-0.717000	0.03617	AAC		PASS	0.313	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		14	62	14	62	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761490	55761490	+	Silent	SNP	A	A	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:55761490A>T	ENST00000278409.1	-	1	611	c.612T>A	c.(610-612)ggT>ggA	p.G204G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	204					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G204G(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAATATTCACACCAGCCAAAA	0.463																																						uc010riv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(610-612)GGT>GGA		olfactory receptor, family 5, subfamily F,							78.0	71.0	73.0					11																	55761490		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761490A>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.612T>A	11.37:g.55761490A>T							p.G204G	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	612	-	Esophageal squamous(21;0.00448)		204			Helical; Name=5; (Potential).		Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.612T>A	CCDS31515.1																																																																																				PASS	0.463	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		12	17	12	17	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62294836	62294836	+	Silent	SNP	G	G	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:62294836G>T	ENST00000378024.4	-	5	7327	c.7053C>A	c.(7051-7053)ccC>ccA	p.P2351P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2351					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.P2351P(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCTAATTTGGGACCTTTGA	0.433																																						uc001ntl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(7051-7053)CCC>CCA		AHNAK nucleoprotein isoform 1							134.0	143.0	140.0					11																	62294836		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62294836G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7053C>A	11.37:g.62294836G>T						AHNAK_uc001ntk.1_Intron	p.P2351P	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	7353	-		Melanoma(852;0.155)	2351					A1A586	Silent	SNP	ENST00000378024.4	37	c.7053C>A	CCDS31584.1																																																																																				PASS	0.433	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		42	102	42	102	---	---	---	---
HRASLS5	117245	broad.mit.edu	37	11	63233629	63233629	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:63233629C>T	ENST00000301790.4	-	5	859	c.700G>A	c.(700-702)Gag>Aag	p.E234K	HRASLS5_ENST00000540857.1_Missense_Mutation_p.E224K|HRASLS5_ENST00000539221.1_Intron			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	234							transferase activity, transferring acyl groups (GO:0016746)	p.E234K(1)|p.E234*(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ACAAAGTGCTCACAGTTCCCT	0.517																																						uc001nwy.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|endometrium(1)	ovary(1)	1						c.(700-702)GAG>AAG		HRAS-like suppressor family, member 5 isoform 1							244.0	171.0	196.0					11																	63233629		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63233629C>T	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.700G>A	11.37:g.63233629C>T	ENSP00000301790:p.Glu234Lys					HRASLS5_uc001nwz.2_Missense_Mutation_p.E224K|HRASLS5_uc010rmq.1_Intron|HRASLS5_uc009yos.2_RNA	p.E234K	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN			5	874	-			234					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.700G>A	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379652	0.82682	.	.	ENSG00000168004	ENST00000540857;ENST00000301790;ENST00000538712	T;T	0.62498	0.02;0.02	4.17	3.26	0.37387	NC (1);	0.000000	0.85682	D	0.000000	T	0.78622	0.4312	M	0.93283	3.4	0.41619	D	0.988956	P;D	0.53312	0.949;0.959	P;P	0.58013	0.739;0.831	T	0.81940	-0.0703	10	0.87932	D	0	-28.1406	8.2955	0.31982	0.0:0.893:0.0:0.107	.	224;234	F5H4Y9;Q96KN8	.;HRSL5_HUMAN	K	224;234;16	ENSP00000444809:E224K;ENSP00000301790:E234K	ENSP00000301790:E234K	E	-	1	0	HRASLS5	62990205	0.999000	0.42202	0.996000	0.52242	0.842000	0.47809	4.417000	0.59822	1.359000	0.45940	0.655000	0.94253	GAG		PASS	0.517	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		27	25	27	25	---	---	---	---
FRMD8	83786	broad.mit.edu	37	11	65167257	65167257	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:65167257A>G	ENST00000317568.5	+	8	1017	c.854A>G	c.(853-855)cAc>cGc	p.H285R	FRMD8_ENST00000416776.2_Missense_Mutation_p.H251R|FRMD8_ENST00000355991.5_Missense_Mutation_p.H229R	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	285	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.H285R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						GGCTTTTTGCACCGGGGTGGG	0.627																																						uc001odu.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(853-855)CAC>CGC		FERM domain containing 8							64.0	67.0	66.0					11																	65167257		2201	4297	6498	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65167257A>G	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.854A>G	11.37:g.65167257A>G	ENSP00000319726:p.His285Arg					FRMD8_uc009yqj.2_Missense_Mutation_p.H229R|FRMD8_uc010rof.1_Missense_Mutation_p.H251R	p.H285R	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN			8	1046	+			285			FERM.		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.854A>G	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.487735	0.44249	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.82803	-1.63;-1.04;-1.65	4.57	3.42	0.39159	FERM domain (1);	0.249312	0.40469	N	0.001081	T	0.73305	0.3570	L	0.60455	1.87	0.38863	D	0.956531	P;P;B	0.44734	0.842;0.683;0.089	B;B;B	0.34536	0.185;0.181;0.035	T	0.69367	-0.5164	10	0.16420	T	0.52	-20.9543	9.7484	0.40462	0.8255:0.1745:0.0:0.0	.	251;229;285	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	R	285;229;251	ENSP00000319726:H285R;ENSP00000348270:H229R;ENSP00000392111:H251R	ENSP00000319726:H285R	H	+	2	0	FRMD8	64923833	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.171000	0.64996	0.692000	0.31613	0.459000	0.35465	CAC		PASS	0.627	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		12	27	12	27	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65392009	65392009	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr11:65392009G>C	ENST00000355703.3	+	15	3323	c.2784G>C	c.(2782-2784)atG>atC	p.M928I		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	928						integral component of membrane (GO:0016021)		p.M928I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCTGCCTCATGTACCTGCTGG	0.642																																						uc001oey.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2782-2784)ATG>ATC		pecanex-like 3							48.0	54.0	52.0					11																	65392009		2004	4155	6159	SO:0001583	missense	399909					integral to membrane		g.chr11:65392009G>C	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2784G>C	11.37:g.65392009G>C	ENSP00000347931:p.Met928Ile					PCNXL3_uc009yqn.2_5'Flank|PCNXL3_uc001oez.2_5'Flank	p.M928I	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			15	2784	+			928					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.2784G>C	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014037	0.75161	.	.	ENSG00000197136	ENST00000355703	T	0.07444	3.19	4.93	4.93	0.64822	.	.	.	.	.	T	0.14874	0.0359	L	0.35793	1.09	0.48452	D	0.999658	P	0.45126	0.851	P	0.55391	0.775	T	0.13282	-1.0515	9	0.15952	T	0.53	.	15.6353	0.76946	0.0:0.0:1.0:0.0	.	928	Q9H6A9	PCX3_HUMAN	I	928	ENSP00000347931:M928I	ENSP00000347931:M928I	M	+	3	0	PCNXL3	65148585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.370000	0.97159	2.302000	0.77476	0.462000	0.41574	ATG		PASS	0.642	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		2	1	2	1	---	---	---	---
SLC6A12	6539	broad.mit.edu	37	12	302493	302493	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:302493A>G	ENST00000428720.1	-	14	2223	c.1480T>C	c.(1480-1482)Tgg>Cgg	p.W494R	RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000536824.1_Missense_Mutation_p.W494R|SLC6A12_ENST00000424061.2_Missense_Mutation_p.W494R|SLC6A12_ENST00000397296.2_Missense_Mutation_p.W494R|SLC6A12_ENST00000359674.4_Missense_Mutation_p.W494R	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	494					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.W494R(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ACCAGGGGCCATGGCCGGTAG	0.592																																						uc001qhz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1480-1482)TGG>CGG		solute carrier family 6 (neurotransmitter							114.0	99.0	104.0					12																	302493		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:302493A>G	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1480T>C	12.37:g.302493A>G	ENSP00000388184:p.Trp494Arg					SLC6A12_uc001qhx.2_Missense_Mutation_p.W151R|SLC6A12_uc001qhy.2_Missense_Mutation_p.W50R|SLC6A12_uc001qia.2_Missense_Mutation_p.W494R|SLC6A12_uc001qib.2_Missense_Mutation_p.W494R|SLC6A12_uc009zdh.1_Missense_Mutation_p.W494R	p.W494R	NM_003044	NP_003035	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		15	2023	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		494					A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.1480T>C	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.579330	0.46006	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	4.85	4.85	0.62838	.	0.138816	0.51477	D	0.000093	T	0.78027	0.4219	L	0.52126	1.63	0.47341	D	0.999397	P	0.45827	0.867	P	0.54629	0.757	T	0.74893	-0.3509	10	0.25106	T	0.35	.	14.61	0.68510	1.0:0.0:0.0:0.0	.	494	P48065	S6A12_HUMAN	R	494	ENSP00000352702:W494R;ENSP00000380464:W494R;ENSP00000388184:W494R;ENSP00000399136:W494R;ENSP00000444268:W494R	ENSP00000352702:W494R	W	-	1	0	SLC6A12	172754	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	5.858000	0.69532	2.035000	0.60131	0.459000	0.35465	TGG		PASS	0.592	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		85	47	85	47	---	---	---	---
SLC6A13	6540	broad.mit.edu	37	12	344277	344277	+	Silent	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:344277G>C	ENST00000343164.4	-	7	862	c.810C>G	c.(808-810)ctC>ctG	p.L270L	SLC6A13_ENST00000445055.2_Silent_p.L178L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	270					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.L270L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAGACGCGTGAGGTTTGGGT	0.572																																						uc001qic.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(808-810)CTC>CTG		solute carrier family 6 (neurotransmitter							122.0	109.0	114.0					12																	344277		2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:344277G>C	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.810C>G	12.37:g.344277G>C						SLC6A13_uc009zdj.1_Silent_p.L270L|SLC6A13_uc010sdl.1_Silent_p.L178L|SLC6A13_uc010sdm.1_Silent_p.L151L	p.L270L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		7	863	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		270					B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.810C>G	CCDS8502.1																																																																																				PASS	0.572	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		11	102	11	102	---	---	---	---
FAM90A1	55138	broad.mit.edu	37	12	8374448	8374448	+	Silent	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:8374448G>C	ENST00000538603.1	-	7	1923	c.1365C>G	c.(1363-1365)tcC>tcG	p.S455S	RP11-266K4.1_ENST00000542600.1_RNA|FAM90A1_ENST00000307435.6_Silent_p.S455S	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	455							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S455S(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGTCCTCTGAGGAGGAGGGAA	0.607																																						uc001qui.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1363-1365)TCC>TCG		hypothetical protein LOC55138							29.0	40.0	36.0					12																	8374448		1596	2926	4522	SO:0001819	synonymous_variant	55138						nucleic acid binding|zinc ion binding	g.chr12:8374448G>C	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.1365C>G	12.37:g.8374448G>C						FAM90A1_uc001quh.2_Silent_p.S455S	p.S455S	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1924	-			455					D3DUU9|Q9NVZ6	Silent	SNP	ENST00000538603.1	37	c.1365C>G	CCDS31738.1																																																																																				PASS	0.607	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		6	117	6	117	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	8994045	8994045	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:8994045C>T	ENST00000299698.7	+	11	1341	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.F387F(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATGGAACCTTCAACCAGACCC	0.463																																						uc001quz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1159-1161)TTC>TTT		alpha-2-macroglobulin-like 1 precursor							132.0	123.0	126.0					12																	8994045		1916	4133	6049	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8994045C>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1161C>T	12.37:g.8994045C>T						A2ML1_uc001qva.1_5'Flank	p.F387F	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			11	1259	+			231						Silent	SNP	ENST00000299698.7	37	c.1161C>T	CCDS8596.2																																																																																				PASS	0.463	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		97	63	97	63	---	---	---	---
KLRC3	3823	broad.mit.edu	37	12	10569292	10569292	+	Silent	SNP	T	T	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:10569292T>A	ENST00000396439.2	-	5	605	c.561A>T	c.(559-561)acA>acT	p.T187T	KLRC3_ENST00000381903.2_Silent_p.T187T|NKG2-E_ENST00000539033.1_Silent_p.T187T|KLRC3_ENST00000381904.2_Silent_p.T187T	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	187	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.T187T(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						AACCATTTATTGTCACCCATG	0.303																																						uc001qyf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(559-561)ACA>ACT		killer cell lectin-like receptor subfamily C,							72.0	69.0	70.0					12																	10569292		2203	4300	6503	SO:0001819	synonymous_variant	3823				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	g.chr12:10569292T>A	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.561A>T	12.37:g.10569292T>A						KLRC3_uc001qyh.2_Silent_p.T187T|KLRC3_uc001qyi.1_Silent_p.T187T	p.T187T	NM_002261	NP_002252	Q07444	NKG2E_HUMAN			5	606	-			187			C-type lectin.|Extracellular (Potential).		Q8WXA4|Q96RL0|Q9UP04	Silent	SNP	ENST00000396439.2	37	c.561A>T	CCDS41755.1																																																																																				PASS	0.303	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		26	75	26	75	---	---	---	---
ETV6	2120	broad.mit.edu	37	12	11992157	11992157	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:11992157G>A	ENST00000396373.4	+	3	521	c.247G>A	c.(247-249)Gac>Aac	p.D83N		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	83	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D83N(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAGGCCAATTGACAGCAACAC	0.488			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	1	Substitution - Missense(1)		lung(1)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(247-249)GAC>AAC		ets variant 6							108.0	101.0	103.0					12																	11992157		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:11992157G>A	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.247G>A	12.37:g.11992157G>A	ENSP00000379658:p.Asp83Asn						p.D83N	NM_001987	NP_001978	P41212	ETV6_HUMAN			3	521	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	83			PNT.		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.247G>A	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316092	0.60524	.	.	ENSG00000139083	ENST00000396373;ENST00000545027	T;T	0.33216	1.42;1.42	5.7	5.7	0.88788	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.310015	0.39687	N	0.001282	T	0.27027	0.0662	L	0.35487	1.065	0.42059	D	0.991156	P	0.37594	0.601	B	0.33521	0.165	T	0.03008	-1.1083	10	0.42905	T	0.14	.	19.4198	0.94716	0.0:0.0:1.0:0.0	.	83	P41212	ETV6_HUMAN	N	83;55	ENSP00000379658:D83N;ENSP00000441463:D55N	ENSP00000379658:D83N	D	+	1	0	ETV6	11883424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.302000	0.65733	2.696000	0.92011	0.655000	0.94253	GAC		PASS	0.488	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		60	42	60	42	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20807117	20807117	+	Silent	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:20807117C>A	ENST00000359062.3	+	15	3202	c.3162C>A	c.(3160-3162)acC>acA	p.T1054T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1054	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.T1054T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AAGAGGAAACCTGTGAAAATA	0.398																																						uc001reh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(3160-3162)ACC>ACA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						102.0	104.0	103.0					12																	20807117		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20807117C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3162C>A	12.37:g.20807117C>A							p.T1054T	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			15	3184	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1054			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.3162C>A	CCDS31754.1																																																																																				PASS	0.398	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			4	75	4	75	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40728879	40728879	+	Silent	SNP	T	T	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:40728879T>C	ENST00000298910.7	+	40	5926	c.5868T>C	c.(5866-5868)gaT>gaC	p.D1956D		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1956	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.D1956D(1)|p.D1963D(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTCCTTGGATCGCCTGCTTC	0.527																																						uc001rmg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(5866-5868)GAT>GAC		leucine-rich repeat kinase 2							123.0	114.0	117.0					12																	40728879		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40728879T>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5868T>C	12.37:g.40728879T>C						LRRK2_uc009zjw.2_Silent_p.D794D|LRRK2_uc001rmi.2_Silent_p.D789D	p.D1956D	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			40	5989	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1956			Protein kinase.		A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.5868T>C	CCDS31774.1																																																																																				PASS	0.527	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		13	102	13	102	---	---	---	---
PRICKLE1	144165	broad.mit.edu	37	12	42858569	42858569	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:42858569C>G	ENST00000455697.1	-	7	1552	c.1267G>C	c.(1267-1269)Ggt>Cgt	p.G423R	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.G423R|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.G423R|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.G423R|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.G423R	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	423					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G423R(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTTTATCACCAAACTTGAGG	0.433																																						uc010skv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1267-1269)GGT>CGT		prickle homolog 1							72.0	75.0	74.0					12																	42858569		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42858569C>G	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1267G>C	12.37:g.42858569C>G	ENSP00000401060:p.Gly423Arg					PRICKLE1_uc001rnl.2_Missense_Mutation_p.G423R|PRICKLE1_uc010skw.1_Missense_Mutation_p.G423R|PRICKLE1_uc001rnm.2_Missense_Mutation_p.G423R	p.G423R	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	7	1554	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		423					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1267G>C	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359997	0.82353	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.76	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.67646	0.2915	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.73395	-0.3996	10	0.72032	D	0.01	-0.1247	16.3439	0.83116	0.1332:0.8668:0.0:0.0	.	423	Q96MT3	PRIC1_HUMAN	R	423	ENSP00000401060:G423R;ENSP00000398947:G423R;ENSP00000448359:G423R;ENSP00000345064:G423R;ENSP00000449819:G423R	ENSP00000345064:G423R	G	-	1	0	PRICKLE1	41144836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	1.531000	0.49152	0.650000	0.86243	GGT		PASS	0.433	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			13	57	13	57	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49434376	49434376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:49434376C>A	ENST00000301067.7	-	31	7176	c.7177G>T	c.(7177-7179)Gag>Tag	p.E2393*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2393	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E2123*(1)|p.E2393*(1)									CAGCAGCTCTCAGGGGGCGGA	0.632																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Nonsense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(7177-7179)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							18.0	23.0	21.0					12																	49434376		2046	4192	6238	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49434376C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7177G>T	12.37:g.49434376C>A	ENSP00000301067:p.Glu2393*	HNSCC(34;0.089)					p.E2393*	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	7177	-			2393			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.7177G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	46	12.361151	0.99660	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.37955	N	0.001871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:1.0:0.0:0.0	.	.	.	.	X	2393	.	ENSP00000301067:E2393X	E	-	1	0	MLL2	47720643	0.996000	0.38824	1.000000	0.80357	0.529000	0.34654	3.718000	0.54919	2.596000	0.87737	0.591000	0.81541	GAG		PASS	0.632	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			18	6	18	6	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57600359	57600359	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:57600359G>C	ENST00000243077.3	+	76	12160	c.11694G>C	c.(11692-11694)gaG>gaC	p.E3898D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3898					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.E3898D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGGTGACGAGAGTGTCCGCA	0.587																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(11692-11694)GAG>GAC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						215.0	137.0	164.0					12																	57600359		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57600359G>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11694G>C	12.37:g.57600359G>C	ENSP00000243077:p.Glu3898Asp						p.E3898D	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	76	12160	+			3898			Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11694G>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	9.832	1.188801	0.21954	.	.	ENSG00000123384	ENST00000243077	D	0.90900	-2.75	4.96	4.96	0.65561	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.250025	0.32935	N	0.005476	T	0.81221	0.4777	N	0.12443	0.215	0.80722	D	1	B	0.26318	0.146	B	0.24974	0.057	T	0.76898	-0.2789	10	0.08179	T	0.78	.	17.4964	0.87718	0.0:0.0:1.0:0.0	.	3898	Q07954	LRP1_HUMAN	D	3898	ENSP00000243077:E3898D	ENSP00000243077:E3898D	E	+	3	2	LRP1	55886626	1.000000	0.71417	0.996000	0.52242	0.868000	0.49771	3.729000	0.54999	2.735000	0.93741	0.655000	0.94253	GAG		PASS	0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		7	42	7	42	---	---	---	---
ALX1	8092	broad.mit.edu	37	12	85695041	85695041	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:85695041C>G	ENST00000316824.3	+	4	924	c.769C>G	c.(769-771)Cgg>Ggg	p.R257G		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	257					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R257G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TCACTCGCCTCGGACAGATTC	0.483																																						uc001tae.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(769-771)CGG>GGG		cartilage paired-class homeoprotein 1							128.0	119.0	122.0					12																	85695041		2203	4299	6502	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85695041C>G	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.769C>G	12.37:g.85695041C>G	ENSP00000315417:p.Arg257Gly						p.R257G	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	4	773	+			257					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.769C>G	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	3.494	-0.103224	0.06967	.	.	ENSG00000180318	ENST00000316824	D	0.91631	-2.88	5.99	5.99	0.97316	.	0.105732	0.64402	D	0.000007	D	0.82641	0.5081	N	0.05441	-0.05	0.53005	D	0.999969	B	0.21520	0.057	B	0.15052	0.012	T	0.77955	-0.2393	10	0.16420	T	0.52	.	15.2218	0.73316	0.1405:0.8595:0.0:0.0	.	257	Q15699	ALX1_HUMAN	G	257	ENSP00000315417:R257G	ENSP00000315417:R257G	R	+	1	2	ALX1	84219172	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.576000	0.53878	2.840000	0.97914	0.655000	0.94253	CGG		PASS	0.483	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		31	33	31	33	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104156178	104156178	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:104156178G>A	ENST00000388887.2	+	67	7690	c.7486G>A	c.(7486-7488)Gag>Aag	p.E2496K	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.E2496K(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAGCATTTTGAGGTAAGAGA	0.527																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(7486-7488)GAG>AAG		stabilin 2 precursor							91.0	88.0	89.0					12																	104156178		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104156178G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7486G>A	12.37:g.104156178G>A	ENSP00000373539:p.Glu2496Lys					STAB2_uc009zug.2_RNA	p.E2496K	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			67	7672	+			2496			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.7486G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744187	0.30865	.	.	ENSG00000136011	ENST00000388887	T	0.61040	0.14	5.19	4.29	0.51040	.	0.451511	0.20940	N	0.082940	T	0.49932	0.1586	L	0.56769	1.78	0.36107	D	0.844565	B	0.17852	0.024	B	0.16722	0.016	T	0.51172	-0.8739	10	0.14656	T	0.56	.	10.545	0.45056	0.1694:0.0:0.8306:0.0	.	2496	Q8WWQ8	STAB2_HUMAN	K	2496	ENSP00000373539:E2496K	ENSP00000373539:E2496K	E	+	1	0	STAB2	102680308	1.000000	0.71417	0.996000	0.52242	0.765000	0.43378	1.738000	0.38207	1.178000	0.42870	0.561000	0.74099	GAG		PASS	0.527	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			10	28	10	28	---	---	---	---
NUAK1	9891	broad.mit.edu	37	12	106461045	106461045	+	Silent	SNP	C	C	A	rs138538652	byFrequency	TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:106461045C>A	ENST00000261402.2	-	7	2900	c.1521G>T	c.(1519-1521)ccG>ccT	p.P507P		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	507					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.P507P(4)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGCTGGGTCCGGGGGGCTGG	0.602																																						uc001tlj.1																			4	Substitution - coding silent(4)		lung(2)|prostate(2)	ovary(1)|central_nervous_system(1)	2						c.(1519-1521)CCG>CCT		AMPK-related protein kinase 5							49.0	57.0	54.0					12																	106461045		2203	4300	6503	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106461045C>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1521G>T	12.37:g.106461045C>A							p.P507P	NM_014840	NP_055655	O60285	NUAK1_HUMAN			7	2901	-			507					A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.1521G>T	CCDS31892.1																																																																																				PASS	0.602	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		34	18	34	18	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109949053	109949053	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:109949053G>A	ENST00000342494.3	+	18	2496	c.1901G>A	c.(1900-1902)aGa>aAa	p.R634K	UBE3B_ENST00000434735.2_Missense_Mutation_p.R634K|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.R634K	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	634					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R634K(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GACAGGGACAGAAAACGGGCA	0.483																																						uc001top.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(1900-1902)AGA>AAA		ubiquitin protein ligase E3B							181.0	140.0	154.0					12																	109949053		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109949053G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1901G>A	12.37:g.109949053G>A	ENSP00000340596:p.Arg634Lys					UBE3B_uc001toq.2_Missense_Mutation_p.R634K|UBE3B_uc001tos.2_Missense_Mutation_p.R61K|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R634K	p.R634K	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			18	2504	+			634					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.1901G>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	5.841	0.339319	0.11069	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494;ENST00000539584	T;T;T;T	0.39406	1.39;1.08;1.65;1.39	4.69	4.69	0.59074	.	0.095564	0.64402	D	0.000001	T	0.17109	0.0411	N	0.04669	-0.19	0.37396	D	0.91262	B	0.02656	0.0	B	0.01281	0.0	T	0.16958	-1.0385	10	0.02654	T	1	0.9783	10.1591	0.42840	0.1016:0.0:0.8984:0.0	.	634	Q7Z3V4	UBE3B_HUMAN	K	634;634;634;634;61	ENSP00000391529:R634K;ENSP00000280774:R634K;ENSP00000443131:R634K;ENSP00000340596:R634K	ENSP00000280774:R634K	R	+	2	0	UBE3B	108433436	1.000000	0.71417	0.326000	0.25389	0.846000	0.48090	4.503000	0.60407	2.438000	0.82558	0.561000	0.74099	AGA		PASS	0.483	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		10	23	10	23	---	---	---	---
C12orf65	91574	broad.mit.edu	37	12	123741366	123741366	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:123741366C>G	ENST00000253233.1	+	3	933	c.289C>G	c.(289-291)Cag>Gag	p.Q97E	RP11-282O18.3_ENST00000544890.1_RNA|RP11-282O18.3_ENST00000542427.2_RNA|RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.Q97E|C12orf65_ENST00000429587.2_Missense_Mutation_p.Q97E|RP11-282O18.3_ENST00000543217.2_RNA	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	97	GGQ domain. {ECO:0000250}.				cell death (GO:0008219)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)	p.Q97E(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		ACAGTGCCATCAGACAAGATC	0.358																																						uc001uen.2																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)CAG>GAG		hypothetical protein LOC91574							49.0	52.0	51.0					12																	123741366		2203	4300	6503	SO:0001583	missense	91574					mitochondrion	translation release factor activity	g.chr12:123741366C>G	AK095982	CCDS9244.1	12q24.31	2013-01-07			ENSG00000130921	ENSG00000130921			26784	protein-coding gene	gene with protein product		613541				20598281, 22688947, 23188110	Standard	NM_152269		Approved	FLJ38663, SPG55	uc001uen.3	Q9H3J6	OTTHUMG00000168852	ENST00000253233.1:c.289C>G	12.37:g.123741366C>G	ENSP00000253233:p.Gln97Glu					C12orf65_uc001ueo.2_RNA|C12orf65_uc010tan.1_Missense_Mutation_p.Q97E	p.Q97E	NM_152269	NP_689482	Q9H3J6	CL065_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)	3	555	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		97					Q8WUC6	Missense_Mutation	SNP	ENST00000253233.1	37	c.289C>G	CCDS9244.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411697	0.42817	.	.	ENSG00000130921	ENST00000253233;ENST00000366329;ENST00000543139;ENST00000429587	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.86	5.86	0.93980	Peptide chain release factor class I/class II (1);	0.054775	0.85682	D	0.000000	T	0.09158	0.0226	N	0.16656	0.425	0.39117	D	0.961596	B	0.28470	0.213	B	0.31101	0.124	T	0.37934	-0.9684	10	0.23302	T	0.38	-17.4096	18.0323	0.89289	0.0:1.0:0.0:0.0	.	97	Q9H3J6	CL065_HUMAN	E	97	ENSP00000253233:Q97E;ENSP00000390647:Q97E;ENSP00000444843:Q97E;ENSP00000391513:Q97E	ENSP00000253233:Q97E	Q	+	1	0	C12orf65	122307319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.985000	0.70556	2.784000	0.95788	0.644000	0.83932	CAG		PASS	0.358	C12orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401375.1	NM_152269		24	25	24	25	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126128684	126128684	+	Silent	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr12:126128684G>C	ENST00000299308.3	+	6	1493	c.1485G>C	c.(1483-1485)acG>acC	p.T495T	TMEM132B_ENST00000535886.1_Silent_p.T7T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	495						integral component of membrane (GO:0016021)		p.T495T(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGTGGACACGATTGTGAACT	0.502																																						uc001uhe.1																			1	Substitution - coding silent(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1483-1485)ACG>ACC		transmembrane protein 132B							106.0	105.0	106.0					12																	126128684		2021	4179	6200	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126128684G>C	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1485G>C	12.37:g.126128684G>C						TMEM132B_uc001uhf.1_Silent_p.T7T	p.T495T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	6	1493	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		495			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.1485G>C	CCDS41859.1																																																																																				PASS	0.502	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		21	42	21	42	---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25466857	25466857	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr13:25466857C>G	ENST00000381884.4	-	10	3325	c.3140G>C	c.(3139-3141)aGa>aCa	p.R1047T	CENPJ_ENST00000545981.1_Missense_Mutation_p.R1047T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1047					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.R1047T(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CAGTCGGAATCTTTCCATCAC	0.512																																						uc001upt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3139-3141)AGA>ACA		centromere protein J							191.0	183.0	185.0					13																	25466857		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25466857C>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3140G>C	13.37:g.25466857C>G	ENSP00000371308:p.Arg1047Thr					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_Missense_Mutation_p.R81T	p.R1047T	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	10	3393	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1047					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3140G>C	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.950933|3.950933	0.73787|0.73787	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000418179|ENST00000381884;ENST00000545981;ENST00000445729	.|T;T	.|0.37411	.|1.2;1.79	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.053361	.|0.64402	.|D	.|0.000001	T|T	0.57888|0.57888	0.2084|0.2084	M|M	0.79475|0.79475	2.455|2.455	0.31810|0.31810	N|N	0.627258|0.627258	.|D;P	.|0.71674	.|0.998;0.956	.|D;P	.|0.69142	.|0.962;0.63	T|T	0.67035|0.67035	-0.5772|-0.5772	5|10	.|0.62326	.|D	.|0.03	.|.	11.4406|11.4406	0.50094|0.50094	0.0:0.9153:0.0:0.0847|0.0:0.9153:0.0:0.0847	.|.	.|128;1047	.|Q5T6R6;Q9HC77	.|.;CENPJ_HUMAN	N|T	128|1047	.|ENSP00000371308:R1047T;ENSP00000441090:R1047T	.|ENSP00000371308:R1047T	K|R	-|-	3|2	2|0	CENPJ|CENPJ	24364857|24364857	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	1.390000|1.390000	0.34464|0.34464	2.606000|2.606000	0.88127|0.88127	0.555000|0.555000	0.69702|0.69702	AAG|AGA		PASS	0.512	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		29	50	29	50	---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25466876	25466876	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr13:25466876C>G	ENST00000381884.4	-	10	3306	c.3121G>C	c.(3121-3123)Gaa>Caa	p.E1041Q	CENPJ_ENST00000545981.1_Missense_Mutation_p.E1041Q	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1041					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.E1041Q(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ACTTTTATTTCTTCCCGGAGG	0.473																																						uc001upt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3121-3123)GAA>CAA		centromere protein J							188.0	183.0	184.0					13																	25466876		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25466876C>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3121G>C	13.37:g.25466876C>G	ENSP00000371308:p.Glu1041Gln					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_Missense_Mutation_p.E75Q	p.E1041Q	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	10	3374	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1041					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3121G>C	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.993550|3.993550	0.74703|0.74703	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729|ENST00000418179	T;T|.	0.45668|.	0.89;1.2|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77498|0.77498	0.4139|0.4139	M|M	0.79475|0.79475	2.455|2.455	0.44227|0.44227	D|D	0.997069|0.997069	D;P|.	0.62365|.	0.991;0.881|.	P;B|.	0.61800|.	0.894;0.32|.	T|T	0.77998|0.77998	-0.2376|-0.2376	10|5	0.34782|.	T|.	0.22|.	.|.	17.9193|17.9193	0.88961|0.88961	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	122;1041|.	Q5T6R6;Q9HC77|.	.;CENPJ_HUMAN|.	Q|T	1041|122	ENSP00000371308:E1041Q;ENSP00000441090:E1041Q|.	ENSP00000371308:E1041Q|.	E|R	-|-	1|2	0|0	CENPJ|CENPJ	24364876|24364876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	4.344000|4.344000	0.59354|0.59354	2.606000|2.606000	0.88127|0.88127	0.555000|0.555000	0.69702|0.69702	GAA|AGA		PASS	0.473	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		33	48	33	48	---	---	---	---
KL	9365	broad.mit.edu	37	13	33591349	33591349	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr13:33591349C>G	ENST00000380099.3	+	1	779	c.771C>G	c.(769-771)atC>atG	p.I257M	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	257	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.I257M(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCCCGGCATCCGGGGCAGCC	0.716																																						uc001uus.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(769-771)ATC>ATG		klotho precursor							9.0	10.0	10.0					13																	33591349		1999	3956	5955	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33591349C>G	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.771C>G	13.37:g.33591349C>G	ENSP00000369442:p.Ile257Met					KL_uc001uur.1_Intron	p.I257M	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	779	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	257			Glycosyl hydrolase-1 1.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.771C>G	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805388	0.50315	.	.	ENSG00000133116	ENST00000380099	T	0.31510	1.49	4.55	1.37	0.22104	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.299846	0.33199	N	0.005174	T	0.38026	0.1025	L	0.54863	1.705	0.43095	D	0.994778	P	0.41498	0.752	P	0.50896	0.653	T	0.13629	-1.0502	10	0.37606	T	0.19	-19.084	11.7534	0.51862	0.0:0.373:0.5428:0.0842	.	257	Q9UEF7	KLOT_HUMAN	M	257	ENSP00000369442:I257M	ENSP00000369442:I257M	I	+	3	3	KL	32489349	0.561000	0.26578	0.999000	0.59377	0.989000	0.77384	0.011000	0.13264	0.385000	0.24970	0.563000	0.77884	ATC		PASS	0.716	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			4	4	4	4	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41704624	41704624	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr13:41704624C>T	ENST00000379485.1	-	1	2258	c.2024G>A	c.(2023-2025)tGa>tAa	p.*675*	KBTBD6_ENST00000499385.2_Silent_p.*609*	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	0								p.*675*(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTGTGCATTTCACTGAGGCGC	0.388																																						uc001uxu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2023-2025)TGA>TAA		kelch repeat and BTB (POZ) domain-containing 6							60.0	61.0	61.0					13																	41704624		2203	4300	6503	SO:0001819	synonymous_variant	89890						protein binding	g.chr13:41704624C>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.2024G>A	13.37:g.41704624C>T						KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.*609*|uc001uxv.1_5'Flank	p.*675*	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	2313	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	675					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	c.2024G>A	CCDS9376.1																																																																																				PASS	0.388	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		6	14	6	14	---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53422512	53422512	+	Silent	SNP	G	G	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr13:53422512G>T	ENST00000377942.3	-	1	263	c.60C>A	c.(58-60)ctC>ctA	p.L20L	PCDH8_ENST00000338862.4_Silent_p.L20L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	20					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.L20L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCACCCAGCAGAGGCTGAAGA	0.622																																					GBM(36;25 841 9273 49207)	uc001vhi.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(58-60)CTC>CTA		protocadherin 8 isoform 1 precursor							55.0	54.0	54.0					13																	53422512		2203	4300	6503	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422512G>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.60C>A	13.37:g.53422512G>T						PCDH8_uc001vhj.2_Silent_p.L20L	p.L20L	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	263	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	20					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.60C>A	CCDS9438.1																																																																																				PASS	0.622	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		17	26	17	26	---	---	---	---
TDRD3	81550	broad.mit.edu	37	13	61084796	61084796	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr13:61084796G>C	ENST00000196169.3	+	10	1557	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	TDRD3_ENST00000377881.2_Missense_Mutation_p.E257Q|TDRD3_ENST00000377894.2_Missense_Mutation_p.E257Q|TDRD3_ENST00000535286.1_Missense_Mutation_p.E350Q	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	257					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.E257Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AATAAGATCTGAAGATGAAGA	0.368																																					Colon(36;164 906 35820 50723)	uc001via.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(769-771)GAA>CAA		tudor domain containing 3 isoform 2							102.0	104.0	104.0					13																	61084796		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61084796G>C	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.769G>C	13.37:g.61084796G>C	ENSP00000196169:p.Glu257Gln					TDRD3_uc010aef.2_Missense_Mutation_p.E82Q|TDRD3_uc001vhz.3_Missense_Mutation_p.E257Q|TDRD3_uc010aeg.2_Missense_Mutation_p.E350Q|TDRD3_uc001vib.3_Missense_Mutation_p.E256Q	p.E257Q	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	10	1557	+		Prostate(109;0.173)|Breast(118;0.174)	257					B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.769G>C	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781233	0.90282	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.37	5.73	5.73	0.89815	.	0.047482	0.85682	D	0.000000	D	0.96219	0.8767	M	0.64997	1.995	0.80722	D	1	D;D;P	0.89917	0.957;1.0;0.911	P;D;B	0.85130	0.684;0.997;0.376	D	0.95336	0.8434	10	0.44086	T	0.13	-25.2901	19.8994	0.96980	0.0:0.0:1.0:0.0	.	350;256;257	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	Q	257;257;257;350	ENSP00000196169:E257Q;ENSP00000367113:E257Q;ENSP00000367126:E257Q;ENSP00000440190:E350Q	ENSP00000196169:E257Q	E	+	1	0	TDRD3	59982797	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.042000	0.93793	2.703000	0.92315	0.650000	0.86243	GAA		PASS	0.368	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		13	17	13	17	---	---	---	---
KTN1	3895	broad.mit.edu	37	14	56096779	56096779	+	Silent	SNP	T	T	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr14:56096779T>C	ENST00000395314.3	+	7	1253	c.1185T>C	c.(1183-1185)caT>caC	p.H395H	KTN1_ENST00000395309.3_Silent_p.H395H|KTN1_ENST00000413890.2_Silent_p.H395H|KTN1_ENST00000395311.1_Silent_p.H395H|KTN1_ENST00000438792.2_Silent_p.H395H|KTN1_ENST00000416613.1_Silent_p.H395H|KTN1_ENST00000395308.1_Silent_p.H395H	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	395					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.H395H(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ACAAAATACATGTCAGTTATC	0.308			T	RET	papillary thryoid																																	uc001xcb.2				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(1183-1185)CAT>CAC		kinectin 1 isoform a							124.0	120.0	121.0					14																	56096779		2203	4299	6502	SO:0001819	synonymous_variant	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56096779T>C		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1185T>C	14.37:g.56096779T>C						KTN1_uc001xce.2_Silent_p.H395H|KTN1_uc001xcc.2_Silent_p.H395H|KTN1_uc001xcd.2_Silent_p.H395H|KTN1_uc010trb.1_Silent_p.H395H|KTN1_uc001xcf.1_Silent_p.H395H	p.H395H	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			8	1487	+			395			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	c.1185T>C	CCDS41957.1																																																																																				PASS	0.308	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			24	38	24	38	---	---	---	---
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr14:106237582C>T	ENST00000390551.2	-	0	160							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTAGGACAGCCGGGAAGGTGT	0.637																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							44.0	41.0	42.0					14																	106237582		1903	4068	5971			8755							g.chr14:106237582C>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237582C>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysh.1_RNA|uc001ysi.1_RNA								3611		-								A2NU35	RNA	SNP	ENST00000390551.2	37	c.57301G>A																																																																																					PASS	0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		3	21	3	21	---	---	---	---
OTUD7A	161725	broad.mit.edu	37	15	31862290	31862290	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr15:31862290C>G	ENST00000307050.4	-	2	354	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	OTUD7A_ENST00000382902.1_Missense_Mutation_p.E88Q	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	88					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E88Q(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGCTCTCGCTCTGGCTGCTTG	0.637																																						uc001zfq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(262-264)GAG>CAG		OTU domain containing 7A							66.0	60.0	62.0					15																	31862290		2201	4300	6501	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31862290C>G	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.262G>C	15.37:g.31862290C>G	ENSP00000305926:p.Glu88Gln					OTUD7A_uc001zfr.2_Missense_Mutation_p.E88Q|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Missense_Mutation_p.E88Q	p.E88Q	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	2	355	-		all_lung(180;1.6e-09)	88					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.262G>C	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.418851	0.62622	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.36157	1.27;1.27	5.13	4.18	0.49190	.	0.102061	0.64402	D	0.000003	T	0.36441	0.0967	L	0.50333	1.59	0.36210	D	0.85132	B;B	0.24823	0.112;0.068	B;B	0.27380	0.079;0.036	T	0.45352	-0.9267	10	0.54805	T	0.06	-26.5018	15.4254	0.75045	0.0:0.8601:0.1399:0.0	.	88;88	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	Q	88	ENSP00000305926:E88Q;ENSP00000372358:E88Q	ENSP00000305926:E88Q	E	-	1	0	OTUD7A	29649582	1.000000	0.71417	0.848000	0.33437	0.941000	0.58515	5.309000	0.65774	1.244000	0.43870	0.655000	0.94253	GAG		PASS	0.637	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		15	9	15	9	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59224582	59224582	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr15:59224582G>C	ENST00000380516.2	-	2	310	c.223C>G	c.(223-225)Cca>Gca	p.P75A	SLTM_ENST00000536328.1_Intron|SLTM_ENST00000557950.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	75					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P75A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCTTGTTTGGAGTATCAGTT	0.343																																						uc002afp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(223-225)CCA>GCA		modulator of estrogen induced transcription							180.0	180.0	180.0					15																	59224582		2191	4292	6483	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59224582G>C	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.223C>G	15.37:g.59224582G>C	ENSP00000369887:p.Pro75Ala					SLTM_uc002afo.2_Missense_Mutation_p.P75A|SLTM_uc002afq.2_5'UTR|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.P75A	p.P75A	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			2	311	-			75					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.223C>G	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832459	0.32421	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	T;T	0.12147	2.71;2.71	5.73	2.41	0.29592	.	0.124427	0.36444	N	0.002592	T	0.10078	0.0247	L	0.50333	1.59	0.80722	D	1	B;B	0.12630	0.006;0.001	B;B	0.10450	0.003;0.005	T	0.15607	-1.0431	10	0.17832	T	0.49	.	4.0276	0.09695	0.0971:0.2909:0.4632:0.1488	.	75;75	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	A	75	ENSP00000369887:P75A;ENSP00000249736:P75A	ENSP00000249736:P75A	P	-	1	0	SLTM	57011874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.554000	0.36266	0.728000	0.32382	-0.152000	0.13540	CCA		PASS	0.343	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		50	70	50	70	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62261510	62261510	+	Missense_Mutation	SNP	G	G	A	rs186736732		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr15:62261510G>A	ENST00000261517.5	-	28	2972	c.2899C>T	c.(2899-2901)Cat>Tat	p.H967Y	VPS13C_ENST00000395898.3_Missense_Mutation_p.H924Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.H967Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.H924Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.H967Y(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCAATTTCATGATAATCCAAG	0.274																																						uc002agz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2899-2901)CAT>TAT		vacuolar protein sorting 13C protein isoform 2A							54.0	51.0	52.0					15																	62261510		2198	4287	6485	SO:0001583	missense	54832				protein localization			g.chr15:62261510G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2899C>T	15.37:g.62261510G>A	ENSP00000261517:p.His967Tyr					VPS13C_uc002aha.2_Missense_Mutation_p.H924Y|VPS13C_uc002ahb.1_Missense_Mutation_p.H967Y|VPS13C_uc002ahc.1_Missense_Mutation_p.H924Y	p.H967Y	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			28	2973	-			967						Missense_Mutation	SNP	ENST00000261517.5	37	c.2899C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	6.136	0.393289	0.11638	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.17528	2.27;2.27;2.27	4.91	2.01	0.26516	.	0.161551	0.42172	D	0.000741	T	0.07413	0.0187	N	0.16307	0.4	0.25445	N	0.988055	B;B;B;B	0.13145	0.005;0.002;0.007;0.0	B;B;B;B	0.08055	0.002;0.003;0.003;0.001	T	0.42137	-0.9469	10	0.02654	T	1	.	7.6984	0.28608	0.4759:0.0:0.5241:0.0	.	924;967;924;967	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	924;967;967;967	ENSP00000249837:H924Y;ENSP00000261517:H967Y;ENSP00000379233:H967Y	ENSP00000249837:H924Y	H	-	1	0	VPS13C	60048802	1.000000	0.71417	0.995000	0.50966	0.800000	0.45204	1.145000	0.31577	0.219000	0.20840	-0.254000	0.11334	CAT		PASS	0.274	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		17	18	17	18	---	---	---	---
UBL7	84993	broad.mit.edu	37	15	74751086	74751086	+	Silent	SNP	T	T	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr15:74751086T>A	ENST00000567435.1	-	2	586	c.123A>T	c.(121-123)tcA>tcT	p.S41S	UBL7-AS1_ENST00000564137.1_RNA|UBL7_ENST00000361351.4_Silent_p.S41S|UBL7-AS1_ENST00000567286.1_RNA|UBL7_ENST00000565335.1_Silent_p.S41S|UBL7_ENST00000395081.2_Silent_p.S41S|UBL7_ENST00000564488.1_Silent_p.S41S|UBL7-AS1_ENST00000568853.1_RNA|UBL7-AS1_ENST00000499217.2_RNA|UBL7-AS1_ENST00000564621.1_RNA			Q96S82	UBL7_HUMAN	ubiquitin-like 7	41	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.							p.S41S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GCTTCAGAAATGAAATACTAT	0.517																																						uc002axw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(121-123)TCA>TCT		ubiquitin-like 7							107.0	113.0	111.0					15																	74751086		2197	4296	6493	SO:0001819	synonymous_variant	84993						protein binding	g.chr15:74751086T>A	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.123A>T	15.37:g.74751086T>A						UBL7_uc002axx.1_Silent_p.S81S|UBL7_uc010bjr.1_Intron|UBL7_uc002axy.1_Silent_p.S41S|UBL7_uc002axz.1_Silent_p.S41S|uc002aya.2_5'Flank|uc002ayb.2_5'Flank	p.S41S	NM_032907	NP_116296	Q96S82	UBL7_HUMAN			2	285	-			41			Ubiquitin-like.		D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	c.123A>T	CCDS10263.1																																																																																				PASS	0.517	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		44	90	44	90	---	---	---	---
ITFG3	83986	broad.mit.edu	37	16	312511	312511	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:312511G>A	ENST00000399932.3	+	8	1381	c.930G>A	c.(928-930)gaG>gaA	p.E310E	ITFG3_ENST00000301678.3_Silent_p.E310E|ITFG3_ENST00000301679.2_Silent_p.E310E|ITFG3_ENST00000450082.2_Silent_p.E310E|ITFG3_ENST00000600536.1_Silent_p.E310E|ITFG3_ENST00000442458.2_Silent_p.E310E	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	310						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E310E(1)		central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGCACTGGGAGAGCATGCTCA	0.632																																						uc002cgf.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(928-930)GAG>GAA		integrin alpha FG-GAP repeat containing 3							47.0	56.0	53.0					16																	312511		1992	4172	6164	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:312511G>A	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.930G>A	16.37:g.312511G>A						ITFG3_uc010bqr.2_RNA|ITFG3_uc002cgg.2_Silent_p.E310E|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Silent_p.E310E	p.E310E	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN			8	1125	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	310			Extracellular (Potential).		D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.930G>A	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	G	1.264	-0.615035	0.03663	.	.	ENSG00000167930	ENST00000424016	.	.	.	5.1	4.15	0.48705	.	.	.	.	.	T	0.60011	0.2236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57382	-0.7821	4	.	.	.	-4.7758	9.6502	0.39892	0.097:0.0:0.903:0.0	.	.	.	.	K	2	.	.	R	+	2	0	ITFG3	252512	0.994000	0.37717	0.859000	0.33776	0.035000	0.12851	2.332000	0.43903	1.287000	0.44583	0.561000	0.74099	AGA		PASS	0.632	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		11	30	11	30	---	---	---	---
E4F1	1877	broad.mit.edu	37	16	2282359	2282359	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:2282359C>G	ENST00000301727.4	+	4	651	c.603C>G	c.(601-603)ttC>ttG	p.F201L	E4F1_ENST00000565090.1_Missense_Mutation_p.F201L|E4F1_ENST00000564139.1_Missense_Mutation_p.F201L	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	201	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.F201L(1)		ovary(1)	1						ACAAGACCTTCAAGACGGTGA	0.687																																						uc002cpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(601-603)TTC>TTG		p120E4F							42.0	43.0	42.0					16																	2282359		2189	4299	6488	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2282359C>G	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.603C>G	16.37:g.2282359C>G	ENSP00000301727:p.Phe201Leu					E4F1_uc010bsi.2_Missense_Mutation_p.F201L|E4F1_uc010bsj.2_Missense_Mutation_p.F201L	p.F201L	NM_004424	NP_004415	Q66K89	E4F1_HUMAN			4	651	+			201			Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.|C2H2-type 1.		A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.603C>G	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.401652	0.83120	.	.	ENSG00000167967	ENST00000301727	T	0.73258	-0.73	5.2	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.76637	0.4015	L	0.59436	1.845	0.48901	D	0.99972	D;P;D	0.76494	0.982;0.866;0.999	P;B;D	0.65874	0.708;0.422;0.939	T	0.77286	-0.2644	10	0.66056	D	0.02	-20.5738	7.0722	0.25185	0.0:0.7636:0.0:0.2364	.	197;201;201	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	L	201	ENSP00000301727:F201L	ENSP00000301727:F201L	F	+	3	2	E4F1	2222360	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.978000	0.40598	2.438000	0.82558	0.550000	0.68814	TTC		PASS	0.687	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		2	8	2	8	---	---	---	---
AMDHD2	51005	broad.mit.edu	37	16	2577777	2577778	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:2577777_2577778TG>CT	ENST00000293971.6	+	5	513_514	c.419_420TG>CT	c.(418-420)cTG>cCT	p.L140P	AMDHD2_ENST00000413459.3_Missense_Mutation_p.L140P|AMDHD2_ENST00000302956.4_Missense_Mutation_p.L140P|CEMP1_ENST00000382350.1_Intron|ATP6C_ENST00000569317.1_Missense_Mutation_p.L93P|AMDHD2_ENST00000565570.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	140					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)	p.L140P(2)|p.L140L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CTCCCAGGGCTGCACCTGGAGG	0.708																																						uc002cqq.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(2)|large_intestine(1)|breast(1)	4						c.(418-420)CTG>CCG|c.(418-420)CTG>CTT		amidohydrolase domain containing 2 isoform 1																																				SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2577777T>C|g.chr16:2577778G>T	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	Exception_encountered	16.37:g.2577777_2577778delinsCT	ENSP00000293971:p.Leu140Pro					AMDHD2_uc002cqp.2_Missense_Mutation_p.L140P|AMDHD2_uc010uwc.1_Missense_Mutation_p.L140P|AMDHD2_uc010uwd.1_5'UTR|AMDHD2_uc002cqp.2_Silent_p.L140L|AMDHD2_uc010uwc.1_Silent_p.L140L|AMDHD2_uc010uwd.1_5'UTR	p.L140P|p.L140L	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN			5	516|517	+			140					B4DL77|Q8WV54	Missense_Mutation|Silent	SNP	ENST00000293971.6	37	c.419T>C|c.420G>T																																																																																					PASS	0.708	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		3|4	5	3	5	---	---	---	---
FAM86A	196483	broad.mit.edu	37	16	5143501	5143501	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:5143501G>A	ENST00000427587.4	-	3	292	c.224C>T	c.(223-225)tCa>tTa	p.S75L	FAM86A_ENST00000458008.4_Missense_Mutation_p.S75L|FAM86A_ENST00000587133.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	75						cytoplasm (GO:0005737)		p.S75L(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						GATGAGTTCTGAGAGAAAGCA	0.587																																						uc002cyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)TCA>TTA		hypothetical protein LOC196483 isoform 1							60.0	57.0	58.0					16																	5143501		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5143501G>A	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.224C>T	16.37:g.5143501G>A	ENSP00000398502:p.Ser75Leu					FAM86A_uc002cyp.2_Missense_Mutation_p.S75L	p.S75L	NM_201400	NP_958802	Q96G04	FA86A_HUMAN			3	273	-			75					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.224C>T	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943699	0.34283	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.25414	1.8;1.8	3.92	2.96	0.34315	.	0.358421	0.22406	U	0.060479	T	0.34019	0.0883	M	0.74258	2.255	0.80722	D	1	P;P	0.38420	0.58;0.63	P;B	0.45310	0.476;0.354	T	0.10567	-1.0624	10	0.59425	D	0.04	.	7.1582	0.25649	0.1249:0.0:0.8751:0.0	.	75;75	Q96G04-2;Q96G04	.;FA86A_HUMAN	L	75	ENSP00000389710:S75L;ENSP00000398502:S75L	ENSP00000398502:S75L	S	-	2	0	FAM86A	5083502	1.000000	0.71417	0.786000	0.31890	0.331000	0.28603	3.673000	0.54591	0.861000	0.35504	0.455000	0.32223	TCA		PASS	0.587	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		5	18	5	18	---	---	---	---
FAM86A	196483	broad.mit.edu	37	16	5143509	5143509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:5143509G>T	ENST00000427587.4	-	3	284	c.216C>A	c.(214-216)tgC>tgA	p.C72*	FAM86A_ENST00000458008.4_Nonsense_Mutation_p.C72*|FAM86A_ENST00000587133.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	72						cytoplasm (GO:0005737)		p.C72*(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CTGAGAGAAAGCACCGGGCAT	0.572																																						uc002cyo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(214-216)TGC>TGA		hypothetical protein LOC196483 isoform 1							66.0	62.0	64.0					16																	5143509		2197	4300	6497	SO:0001587	stop_gained	196483							g.chr16:5143509G>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.216C>A	16.37:g.5143509G>T	ENSP00000398502:p.Cys72*					FAM86A_uc002cyp.2_Nonsense_Mutation_p.C72*	p.C72*	NM_201400	NP_958802	Q96G04	FA86A_HUMAN			3	265	-			72					D3DUF0|Q96S85	Nonsense_Mutation	SNP	ENST00000427587.4	37	c.216C>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219534	0.58560	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	.	.	.	3.92	2.94	0.34122	.	0.912829	0.09107	U	0.847575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.6337	0.28253	0.1201:0.0:0.8799:0.0	.	.	.	.	X	72	.	ENSP00000398502:C72X	C	-	3	2	FAM86A	5083510	0.981000	0.34729	0.872000	0.34217	0.374000	0.29953	1.243000	0.32767	0.853000	0.35312	0.455000	0.32223	TGC		PASS	0.572	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		5	17	5	17	---	---	---	---
NOMO2	283820	broad.mit.edu	37	16	18549903	18549904	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:18549903_18549904CC>AA	ENST00000381474.3	-	11	1229_1230	c.1164_1165GG>TT	c.(1162-1167)acGGtc>acTTtc	p.V389F	NOMO2_ENST00000330537.6_Missense_Mutation_p.V389F|NOMO2_ENST00000543392.1_Missense_Mutation_p.V222F	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	389						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V389F(2)|p.T388T(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TTGATGGTGACCGTTTCAAAGT	0.455																																						uc002dfe.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(1)	1						c.(1165-1167)GTC>TTC|c.(1162-1164)ACG>ACT		nodal modulator 2 isoform 1																																				SO:0001583	missense	283820					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:18549903C>A|g.chr16:18549904C>A	AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1164_1165delinsAA	16.37:g.18549903_18549904delinsAA	ENSP00000370883:p.Val389Phe					NOMO2_uc002dff.2_Missense_Mutation_p.V389F|NOMO2_uc010bvx.2_Missense_Mutation_p.V222F|NOMO2_uc002dff.2_Silent_p.T388T|NOMO2_uc010bvx.2_Silent_p.T221T	p.V389F|p.T388T	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN			11	1237|1236	-			389|388			Lumenal (Potential).		Q4G177	Missense_Mutation|Silent	SNP	ENST00000381474.3	37	c.1165G>T|c.1164G>T	CCDS32394.1																																																																																				PASS	0.455	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		34|33	52	33	52	---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20807807	20807807	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:20807807G>A	ENST00000289416.5	+	13	2145	c.1670G>A	c.(1669-1671)aGa>aAa	p.R557K	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.R549K|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000357967.4_3'UTR|ERI2_ENST00000564349.1_3'UTR|ERI2_ENST00000569729.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	557					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.R557K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AAATATCCCAGAAAGGTAGGC	0.323																																						uc002dhr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1669-1671)AGA>AAA		SA hypertension-associated homolog isoform 1							68.0	68.0	68.0					16																	20807807		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20807807G>A	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1670G>A	16.37:g.20807807G>A	ENSP00000289416:p.Arg557Lys					ERI2_uc002dht.3_3'UTR|ACSM3_uc010vba.1_Missense_Mutation_p.R586K|ERI2_uc002dhs.2_Intron|ERI2_uc010vbb.1_3'UTR|ERI2_uc010bwh.2_3'UTR|ERI2_uc010vbc.1_3'UTR|ERI2_uc002dhu.1_3'UTR	p.R557K	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			13	1857	+			557					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.1670G>A	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892442	0.91889	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.56776	0.44;0.44	5.91	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	N	0.26042	0.785	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.67879	-0.5556	10	0.87932	D	0	-16.8655	17.0027	0.86384	0.0:0.1275:0.8725:0.0	.	549;557	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	K	557;549	ENSP00000289416:R557K;ENSP00000395297:R549K	ENSP00000289416:R557K	R	+	2	0	ACSM3	20715308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.778000	0.85637	1.475000	0.48197	0.650000	0.86243	AGA		PASS	0.323	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		21	40	21	40	---	---	---	---
RNF40	9810	broad.mit.edu	37	16	30777492	30777492	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:30777492G>A	ENST00000324685.6	+	9	1437	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	RNF40_ENST00000563683.1_Intron|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	334					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M334I(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGTTTGAGATGCTGAATGCAG	0.592																																						uc002dzq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1000-1002)ATG>ATA		ring finger protein 40							64.0	67.0	66.0					16																	30777492		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30777492G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1002G>A	16.37:g.30777492G>A	ENSP00000325677:p.Met334Ile					RNF40_uc010caa.2_Missense_Mutation_p.M334I|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.M334I|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank	p.M334I	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		9	1125	+			334			Potential.		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.1002G>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634661	0.67130	.	.	ENSG00000103549	ENST00000324685;ENST00000452273	T	0.28666	1.6	5.8	5.8	0.92144	.	0.077935	0.85682	D	0.000000	T	0.33527	0.0866	L	0.54323	1.7	0.80722	D	1	P;P	0.46706	0.883;0.883	B;B	0.38954	0.286;0.286	T	0.19321	-1.0309	10	0.72032	D	0.01	-21.8618	18.8306	0.92137	0.0:0.0:1.0:0.0	.	334;334	A8K6K1;O75150	.;BRE1B_HUMAN	I	334;183	ENSP00000325677:M334I	ENSP00000325677:M334I	M	+	3	0	RNF40	30684993	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.482000	0.45224	2.747000	0.94245	0.462000	0.41574	ATG		PASS	0.592	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		25	44	25	44	---	---	---	---
BBS2	583	broad.mit.edu	37	16	56548503	56548503	+	Silent	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:56548503G>C	ENST00000245157.5	-	2	627	c.207C>G	c.(205-207)ctC>ctG	p.L69L	BBS2_ENST00000568104.1_Silent_p.L69L	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	69					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.L69L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GGTTAATGCTGAGAAGAGAAA	0.468									Bardet-Biedl syndrome																													uc002ejd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(205-207)CTC>CTG		Bardet-Biedl syndrome 2 protein							66.0	70.0	68.0					16																	56548503		2198	4300	6498	SO:0001819	synonymous_variant	583	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56548503G>C	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.207C>G	16.37:g.56548503G>C						BBS2_uc010ccg.2_Silent_p.L69L	p.L69L	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN			2	441	-			69					Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	c.207C>G	CCDS32451.1																																																																																				PASS	0.468	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		13	37	13	37	---	---	---	---
ATMIN	23300	broad.mit.edu	37	16	81078461	81078461	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:81078461G>A	ENST00000299575.4	+	4	2382	c.2358G>A	c.(2356-2358)caG>caA	p.Q786Q	ATMIN_ENST00000564241.1_Silent_p.Q630Q|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Silent_p.Q630Q	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	786					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.Q786Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ACGAAACTCAGACAGCAATGG	0.483																																						uc002ffz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2356-2358)CAG>CAA		ATM interactor							80.0	79.0	80.0					16																	81078461		2202	4300	6502	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078461G>A	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2358G>A	16.37:g.81078461G>A						ATMIN_uc002fga.2_Silent_p.Q628Q|ATMIN_uc010vnn.1_Silent_p.Q557Q|ATMIN_uc002fgb.1_Silent_p.Q628Q	p.Q786Q	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	2376	+			786					A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.2358G>A	CCDS32494.1																																																																																				PASS	0.483	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		16	31	16	31	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85699825	85699825	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:85699825C>T	ENST00000253458.7	+	13	3178	c.3002C>T	c.(3001-3003)cCt>cTt	p.P1001L	GSE1_ENST00000405402.2_Missense_Mutation_p.P897L|GSE1_ENST00000393243.1_Missense_Mutation_p.P928L	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1001								p.P1001L(1)									AAGGACATTCCTGTGCCGCTG	0.602																																						uc002fix.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(3001-3003)CCT>CTT		genetic suppressor element 1 isoform 1							50.0	49.0	49.0					16																	85699825		2198	4300	6498	SO:0001583	missense	23199						protein binding	g.chr16:85699825C>T	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3002C>T	16.37:g.85699825C>T	ENSP00000253458:p.Pro1001Leu					KIAA0182_uc002fiw.2_Missense_Mutation_p.P897L|KIAA0182_uc002fiy.2_Missense_Mutation_p.P928L|KIAA0182_uc002fiz.2_Missense_Mutation_p.P143L|KIAA0182_uc010cho.2_Missense_Mutation_p.P181L	p.P1001L	NM_014615	NP_055430	Q14687	GSE1_HUMAN			13	3076	+			1001					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.3002C>T	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471993	0.84533	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.30448	1.53;1.53;1.53	5.37	4.42	0.53409	.	0.274240	0.37348	N	0.002128	T	0.38904	0.1058	L	0.27053	0.805	0.49687	D	0.999816	D;D;D;D	0.71674	0.998;0.981;0.981;0.967	P;P;P;P	0.61940	0.896;0.81;0.81;0.65	T	0.24941	-1.0146	10	0.54805	T	0.06	-15.5399	13.8862	0.63710	0.0:0.9267:0.0:0.0733	.	764;897;928;1001	Q59GZ0;Q14687-2;Q14687-3;Q14687	.;.;.;GSE1_HUMAN	L	897;1001;928	ENSP00000384839:P897L;ENSP00000253458:P1001L;ENSP00000376934:P928L	ENSP00000253458:P1001L	P	+	2	0	KIAA0182	84257326	0.843000	0.29541	0.969000	0.41365	0.963000	0.63663	3.960000	0.56752	1.266000	0.44231	0.561000	0.74099	CCT		PASS	0.602	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		6	10	6	10	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89348930	89348930	+	Silent	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:89348930G>C	ENST00000301030.4	-	9	4480	c.4020C>G	c.(4018-4020)ctC>ctG	p.L1340L	ANKRD11_ENST00000378330.2_Silent_p.L1340L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1340	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L1340L(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCTTCTCAGGGAGGCAGGCGC	0.602																																						uc002fmx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4018-4020)CTC>CTG		ankyrin repeat domain 11							55.0	53.0	54.0					16																	89348930		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89348930G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4020C>G	16.37:g.89348930G>C						ANKRD11_uc002fmy.1_Silent_p.L1340L|ANKRD11_uc002fnc.1_Silent_p.L1340L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.L1297L	p.L1340L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4481	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1340			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.4020C>G	CCDS32513.1																																																																																				PASS	0.602	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		7	44	7	44	---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89813023	89813023	+	Missense_Mutation	SNP	G	G	A	rs142833057	byFrequency	TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr16:89813023G>A	ENST00000389301.3	-	35	3512	c.3482C>T	c.(3481-3483)aCg>aTg	p.T1161M	FANCA_ENST00000568369.1_Missense_Mutation_p.T1161M	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1161					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T1161M(2)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGGCATTTCGTCTGGCACTT	0.567			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(3481-3483)ACG>ATG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform		G	MET/THR	0,4396		0,0,2198	89.0	82.0	84.0		3482	3.1	0.1	16	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	FANCA	NM_000135.2	81	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1161/1456	89813023	1,12995	2198	4300	6498	SO:0001583	missense	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89813023G>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3482C>T	16.37:g.89813023G>A	ENSP00000373952:p.Thr1161Met					FANCA_uc010vpn.1_Missense_Mutation_p.T1161M|FANCA_uc010vpo.1_Missense_Mutation_p.T247M	p.T1161M	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	35	3524	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1161					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3482C>T	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618437	0.28801	0.0	1.16E-4	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.85484	-1.99	5.05	3.07	0.35406	.	0.413038	0.22913	N	0.054102	D	0.89966	0.6868	M	0.76002	2.32	0.48901	D	0.999726	B;D;D	0.89917	0.081;1.0;1.0	B;D;D	0.64506	0.013;0.926;0.926	D	0.88801	0.3285	10	0.66056	D	0.02	-9.444	10.0442	0.42177	0.0762:0.1373:0.7865:0.0	.	138;1161;1161	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	M	1161;138	ENSP00000373952:T1161M	ENSP00000306281:T138M	T	-	2	0	FANCA	88340524	0.679000	0.27596	0.134000	0.22075	0.002000	0.02628	1.510000	0.35790	0.525000	0.28522	-0.224000	0.12420	ACG		PASS	0.567	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			21	19	21	19	---	---	---	---
VPS53	55275	broad.mit.edu	37	17	526854	526854	+	Silent	SNP	A	A	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:526854A>C	ENST00000571805.1	-	11	1171	c.1035T>G	c.(1033-1035)ctT>ctG	p.L345L	VPS53_ENST00000446250.2_Silent_p.L147L|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Silent_p.L316L|VPS53_ENST00000437048.2_Silent_p.L345L|VPS53_ENST00000401468.3_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	345					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)		p.L345L(1)|p.L316L(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GAATAGCAAAAAGAAGCAATT	0.438																																						uc002frn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1033-1035)CTT>CTG		vacuolar protein sorting 53 isoform 2							91.0	85.0	87.0					17																	526854		2203	4300	6503	SO:0001819	synonymous_variant	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:526854A>C		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1035T>G	17.37:g.526854A>C						VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Silent_p.L345L|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.L316L|VPS53_uc002fro.2_Silent_p.L147L|VPS53_uc010cjp.1_Intron	p.L345L	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	11	1182	-			345					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37	c.1035T>G																																																																																					PASS	0.438	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		6	59	6	59	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1582619	1582619	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:1582619G>C	ENST00000572621.1	-	9	1640	c.1375C>G	c.(1375-1377)Ctg>Gtg	p.L459V	PRPF8_ENST00000304992.6_Missense_Mutation_p.L459V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	459					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.L459V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CGATGCTTCAGGGCATTCAGC	0.537																																						uc002fte.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)	6						c.(1375-1377)CTG>GTG		U5 snRNP-specific protein							78.0	84.0	82.0					17																	1582619		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582619G>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1375C>G	17.37:g.1582619G>C	ENSP00000460348:p.Leu459Val						p.L459V	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	10	1489	-			459					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.1375C>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397572	0.62177	.	.	ENSG00000174231	ENST00000304992	D	0.83755	-1.76	5.96	1.71	0.24356	PROCN (1);	0.060981	0.64402	D	0.000004	D	0.90328	0.6974	M	0.92317	3.295	0.58432	D	0.999998	D	0.62365	0.991	D	0.67382	0.951	D	0.87005	0.2119	10	0.62326	D	0.03	-12.6232	5.3917	0.16247	0.2628:0.0:0.6082:0.1291	.	459	Q6P2Q9	PRP8_HUMAN	V	459	ENSP00000304350:L459V	ENSP00000304350:L459V	L	-	1	2	PRPF8	1529369	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.818000	0.69236	0.113000	0.18004	0.650000	0.86243	CTG		PASS	0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			32	42	32	42	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCGCGGACGCGGGTGCCG	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(469-471)GTC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	52.0	51.0					17																	7578461		2202	4300	6502	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578461C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F	p.V157F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	663	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		PASS	0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	8	22	8	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10357999	10357999	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:10357999T>A	ENST00000255381.2	-	22	2674	c.2564A>T	c.(2563-2565)aAc>aTc	p.N855I	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	855					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.N855I(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCCTTCATGTTGGCCATCTC	0.443																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(2563-2565)AAC>ATC		myosin, heavy polypeptide 4, skeletal muscle							197.0	173.0	181.0					17																	10357999		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10357999T>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2564A>T	17.37:g.10357999T>A	ENSP00000255381:p.Asn855Ile					uc002gml.1_Intron	p.N855I	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			22	2675	-			855			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2564A>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325814	0.41197	.	.	ENSG00000141048	ENST00000255381	D	0.93547	-3.24	5.17	1.58	0.23477	.	0.176038	0.26213	U	0.025667	D	0.90741	0.7094	M	0.72894	2.215	0.44055	D	0.996797	B	0.15141	0.012	B	0.19391	0.025	D	0.83661	0.0161	10	0.45353	T	0.12	.	8.1634	0.31211	0.0:0.067:0.2508:0.6822	.	855	Q9Y623	MYH4_HUMAN	I	855	ENSP00000255381:N855I	ENSP00000255381:N855I	N	-	2	0	MYH4	10298724	0.941000	0.31946	0.999000	0.59377	0.976000	0.68499	0.481000	0.22260	0.028000	0.15324	0.383000	0.25322	AAC		PASS	0.443	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		7	80	7	80	---	---	---	---
FOXN1	8456	broad.mit.edu	37	17	26861727	26861727	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:26861727G>A	ENST00000226247.2	+	7	1167	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	FOXN1_ENST00000579795.1_Missense_Mutation_p.E380K	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	380					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E380K(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCTTTCAGAAGAGCTGGACAG	0.607																																						uc010crm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1138-1140)GAG>AAG		forkhead box N1							15.0	18.0	17.0					17																	26861727		2193	4291	6484	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26861727G>A	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1138G>A	17.37:g.26861727G>A	ENSP00000226247:p.Glu380Lys					FOXN1_uc002hbj.2_Missense_Mutation_p.E380K	p.E380K	NM_003593	NP_003584	O15353	FOXN1_HUMAN			8	1336	+	Lung NSC(42;0.00431)		380					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1138G>A	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074189	0.76415	.	.	ENSG00000109101	ENST00000226247	D	0.92647	-3.08	4.25	4.25	0.50352	.	0.088287	0.47455	D	0.000234	D	0.89986	0.6874	L	0.27053	0.805	0.49051	D	0.999745	P	0.45715	0.865	P	0.48901	0.594	D	0.90999	0.4841	10	0.51188	T	0.08	.	16.8334	0.85950	0.0:0.0:1.0:0.0	.	380	O15353	FOXN1_HUMAN	K	380	ENSP00000226247:E380K	ENSP00000226247:E380K	E	+	1	0	FOXN1	23885854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.989000	0.76219	2.193000	0.70182	0.561000	0.74099	GAG		PASS	0.607	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			3	12	3	12	---	---	---	---
SLFN12	55106	broad.mit.edu	37	17	33749256	33749256	+	Silent	SNP	G	G	A	rs544335792		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:33749256G>A	ENST00000394562.1	-	4	1315	c.792C>T	c.(790-792)atC>atT	p.I264I	SLFN12_ENST00000304905.5_Silent_p.I264I|SLFN12_ENST00000452764.3_Silent_p.I264I|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	264							ATP binding (GO:0005524)	p.I264I(1)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGACTTTTCGATTTCTCTTT	0.343													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20613	0.0		0.0	False		,,,				2504	0.0					uc002hji.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(790-792)ATC>ATT		schlafen family member 12							82.0	84.0	83.0					17																	33749256		2203	4300	6503	SO:0001819	synonymous_variant	55106						ATP binding	g.chr17:33749256G>A	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.792C>T	17.37:g.33749256G>A						SLFN12_uc002hjj.3_Silent_p.I264I|SLFN12_uc010cts.2_Silent_p.I264I	p.I264I	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1169	-		Ovarian(249;0.17)	264					A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	c.792C>T	CCDS11295.1																																																																																				PASS	0.343	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		24	83	24	83	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37627431	37627431	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:37627431G>C	ENST00000447079.4	+	2	1379	c.1346G>C	c.(1345-1347)aGa>aCa	p.R449T	CDK12_ENST00000430627.2_Missense_Mutation_p.R449T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	449					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.R449T(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGTTACCCAGAAGTGTAAAA	0.388			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2				Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					1	Substitution - Missense(1)		lung(1)	ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(1345-1347)AGA>ACA		Cdc2-related kinase, arginine/serine-rich							82.0	84.0	83.0					17																	37627431		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627431G>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1346G>C	17.37:g.37627431G>C	ENSP00000398880:p.Arg449Thr	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Missense_Mutation_p.R448T|CDK12_uc002hrw.3_Missense_Mutation_p.R449T	p.R449T	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			2	1932	+			449					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.1346G>C	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779770	0.31502	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.41065	1.01;1.01	6.16	4.19	0.49359	.	0.000000	0.53938	D	0.000051	T	0.28797	0.0714	N	0.24115	0.695	0.38005	D	0.934362	B;B;B	0.20459	0.026;0.026;0.045	B;B;B	0.26310	0.031;0.031;0.068	T	0.15521	-1.0434	10	0.62326	D	0.03	-8.084	7.1879	0.25809	0.3547:0.0:0.6453:0.0	.	448;449;449	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	T	449	ENSP00000407720:R449T;ENSP00000398880:R449T	ENSP00000407720:R449T	R	+	2	0	CDK12	34880957	0.967000	0.33354	0.811000	0.32455	0.970000	0.65996	1.749000	0.38319	0.939000	0.37446	0.650000	0.86243	AGA		PASS	0.388	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		20	54	20	54	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37627496	37627496	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:37627496G>C	ENST00000447079.4	+	2	1444	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	CDK12_ENST00000430627.2_Missense_Mutation_p.E471Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	471					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E471Q(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCTAAACACAGAGGTAAAAAA	0.373			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2				Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					1	Substitution - Missense(1)		lung(1)	ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(1411-1413)GAG>CAG		Cdc2-related kinase, arginine/serine-rich							100.0	105.0	103.0					17																	37627496		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627496G>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1411G>C	17.37:g.37627496G>C	ENSP00000398880:p.Glu471Gln	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Missense_Mutation_p.E470Q|CDK12_uc002hrw.3_Missense_Mutation_p.E471Q	p.E471Q	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			2	1997	+			471					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.1411G>C	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890124	0.52014	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.42131	0.98;0.98	5.98	5.98	0.97165	.	0.000000	0.49916	D	0.000135	T	0.55162	0.1903	L	0.27053	0.805	0.45733	D	0.99863	D;D;D	0.67145	0.993;0.993;0.996	D;D;D	0.78314	0.979;0.979;0.991	T	0.53892	-0.8374	10	0.52906	T	0.07	-17.3542	20.4581	0.99154	0.0:0.0:1.0:0.0	.	470;471;471	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	Q	471	ENSP00000407720:E471Q;ENSP00000398880:E471Q	ENSP00000407720:E471Q	E	+	1	0	CDK12	34881022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.957000	0.63652	2.835000	0.97688	0.650000	0.86243	GAG		PASS	0.373	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		27	75	27	75	---	---	---	---
EME1	146956	broad.mit.edu	37	17	48456522	48456522	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:48456522G>A	ENST00000338165.4	+	6	1249	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K	EME1_ENST00000393271.2_Silent_p.K402K|EME1_ENST00000511648.2_Silent_p.K402K	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	389					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.K389K(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGACCAAGAAGCAGCAGCAGA	0.527								Direct reversal of damage;Homologous recombination																														uc002iqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1165-1167)AAG>AAA	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 1							129.0	131.0	130.0					17																	48456522		2203	4300	6503	SO:0001819	synonymous_variant	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48456522G>A	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1167G>A	17.37:g.48456522G>A						EME1_uc010dbp.1_Silent_p.K402K|EME1_uc010dbq.1_5'Flank	p.K389K	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		6	1240	+	Breast(11;5.62e-19)		389					Q96N62	Silent	SNP	ENST00000338165.4	37	c.1167G>A	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	G	1.076	-0.668543	0.03403	.	.	ENSG00000154920	ENST00000510246	.	.	.	5.08	1.94	0.25998	.	.	.	.	.	T	0.53206	0.1782	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	T	0.40979	-0.9534	4	.	.	.	-34.518	5.5381	0.17023	0.1687:0.0:0.6732:0.1582	.	.	.	.	T	201	.	.	A	+	1	0	EME1	45811521	0.992000	0.36948	0.925000	0.36789	0.115000	0.19883	1.770000	0.38532	0.253000	0.21552	0.650000	0.86243	GCA		PASS	0.527	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		21	30	21	30	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48674006	48674006	+	Splice_Site	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:48674006C>T	ENST00000359106.5	+	15	3063	c.3063C>T	c.(3061-3063)gcC>gcT	p.A1021A	CACNA1G_ENST00000507609.1_Splice_Site_p.A1021A|CACNA1G_ENST00000513964.1_Splice_Site_p.A1021A|CACNA1G_ENST00000507510.2_Splice_Site_p.A1021A|CACNA1G_ENST00000507336.1_Splice_Site_p.A1021A|CACNA1G_ENST00000505165.1_Splice_Site_p.A1021A|CACNA1G_ENST00000515765.1_Splice_Site_p.A1021A|CACNA1G_ENST00000510115.1_Splice_Site_p.A998A|CACNA1G_ENST00000513689.2_Splice_Site_p.A1021A|CACNA1G_ENST00000514717.1_Splice_Site_p.A998A|CACNA1G_ENST00000354983.4_Splice_Site_p.A998A|CACNA1G_ENST00000515411.1_Splice_Site_p.A1021A|CACNA1G_ENST00000352832.5_Splice_Site_p.A998A|CACNA1G_ENST00000507896.1_Splice_Site_p.A1021A|CACNA1G_ENST00000503485.1_Splice_Site_p.A1021A|CACNA1G_ENST00000416767.4_Splice_Site_p.A1021A|CACNA1G_ENST00000514181.1_Splice_Site_p.A1021A|CACNA1G_ENST00000502264.1_Splice_Site_p.A998A|CACNA1G_ENST00000515165.1_Splice_Site_p.A1021A|CACNA1G_ENST00000360761.4_Splice_Site_p.A998A|CACNA1G_ENST00000512389.1_Splice_Site_p.A1021A|CACNA1G_ENST00000358244.5_Splice_Site_p.A998A|CACNA1G_ENST00000510366.1_Splice_Site_p.A1021A|CACNA1G_ENST00000429973.2_Splice_Site_p.A1021A|CACNA1G_ENST00000514079.1_Splice_Site_p.A1021A|CACNA1G_ENST00000442258.2_Splice_Site_p.A998A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1021					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.A1021A(3)|p.A998A(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGTGCTTGGCCTGTGAGTACC	0.607																																						uc002irk.1																			4	Substitution - coding silent(4)		lung(4)	breast(1)	1						c.(3061-3063)GCC>GCT		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						98.0	111.0	107.0					17																	48674006		2131	4228	6359	SO:0001630	splice_region_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48674006C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3064+1C>T	17.37:g.48674006C>T						CACNA1G_uc002iri.1_Silent_p.A1021A|CACNA1G_uc002irj.1_Silent_p.A998A|CACNA1G_uc002irl.1_Silent_p.A998A|CACNA1G_uc002irm.1_Silent_p.A998A|CACNA1G_uc002irn.1_Silent_p.A998A|CACNA1G_uc002iro.1_Silent_p.A998A|CACNA1G_uc002irp.1_Silent_p.A1021A|CACNA1G_uc002irq.1_Silent_p.A998A|CACNA1G_uc002irr.1_Silent_p.A1021A|CACNA1G_uc002irs.1_Silent_p.A1021A|CACNA1G_uc002irt.1_Silent_p.A1021A|CACNA1G_uc002irv.1_Silent_p.A1021A|CACNA1G_uc002irw.1_Silent_p.A998A|CACNA1G_uc002iru.1_Silent_p.A998A|CACNA1G_uc002irx.1_Silent_p.A934A|CACNA1G_uc002iry.1_Silent_p.A934A|CACNA1G_uc002irz.1_Silent_p.A934A|CACNA1G_uc002isa.1_Silent_p.A934A|CACNA1G_uc002isb.1_Silent_p.A934A|CACNA1G_uc002isc.1_Silent_p.A934A|CACNA1G_uc002isd.1_Silent_p.A934A|CACNA1G_uc002ise.1_Silent_p.A934A|CACNA1G_uc002isf.1_Silent_p.A934A|CACNA1G_uc002isg.1_Silent_p.A934A|CACNA1G_uc002ish.1_Silent_p.A934A|CACNA1G_uc002isi.1_Silent_p.A911A|CACNA1G_uc002isj.2_5'Flank	p.A1021A	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		15	3435	+	Breast(11;6.7e-17)		1021			Cytoplasmic (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.3063C>T	CCDS45730.1																																																																																				PASS	0.607	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	Silent	11	15	11	15	---	---	---	---
NACA2	342538	broad.mit.edu	37	17	59668329	59668329	+	Silent	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:59668329C>G	ENST00000521764.1	-	1	234	c.213G>C	c.(211-213)cgG>cgC	p.R71R		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	71	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.R71R(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCTTTTCACTCCGACTCTGTT	0.463																																						uc002izj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(211-213)CGG>CGC		nascent-polypeptide-associated complex alpha							230.0	212.0	218.0					17																	59668329		2203	4300	6503	SO:0001819	synonymous_variant	342538				protein transport	cytoplasm|nucleus		g.chr17:59668329C>G	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.213G>C	17.37:g.59668329C>G							p.R71R	NM_199290	NP_954984	Q9H009	NACA2_HUMAN			1	239	-	all_epithelial(1;3.12e-14)		71			NAC-A/B.		Q2VIR9	Silent	SNP	ENST00000521764.1	37	c.213G>C	CCDS11630.1																																																																																				PASS	0.463	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		75	128	75	128	---	---	---	---
CACNG5	27091	broad.mit.edu	37	17	64876810	64876810	+	Silent	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:64876810C>A	ENST00000533854.1	+	4	657	c.420C>A	c.(418-420)ctC>ctA	p.L140L	CACNG5_ENST00000169565.3_Silent_p.L140L|CACNG5_ENST00000307139.3_Silent_p.L140L			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	140					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.L140L(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TCTTTATCCTCTCAGGTAAGT	0.448																																						uc010wqi.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)|skin(1)	2						c.(418-420)CTC>CTA		voltage-dependent calcium channel gamma-5							213.0	197.0	203.0					17																	64876810		2203	4300	6503	SO:0001819	synonymous_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64876810C>A	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.420C>A	17.37:g.64876810C>A						CACNG5_uc002jfr.2_Silent_p.L140L|CACNG5_uc010wqj.1_Silent_p.L140L	p.L140L	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	657	+			140			Helical; (Potential).		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	ENST00000533854.1	37	c.420C>A	CCDS11665.1																																																																																				PASS	0.448	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		45	83	45	83	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67160274	67160274	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr17:67160274C>A	ENST00000269081.4	-	28	4213	c.3304G>T	c.(3304-3306)Gac>Tac	p.D1102Y	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1102					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D1102Y(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCCAGACTGTCCAAGTTTCTC	0.279																																						uc010dfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3304-3306)GAC>TAC		ATP-binding cassette, sub-family A, member 10							66.0	69.0	68.0					17																	67160274		2202	4295	6497	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67160274C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3304G>T	17.37:g.67160274C>A	ENSP00000269081:p.Asp1102Tyr					ABCA10_uc010wqs.1_Missense_Mutation_p.D94Y|ABCA10_uc010wqt.1_RNA	p.D1102Y	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			28	4183	-	Breast(10;6.95e-12)		1102					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.3304G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	7.641	0.680844	0.14907	.	.	ENSG00000154263	ENST00000269081	D	0.87491	-2.26	2.92	0.826	0.18829	.	1.331520	0.06335	U	0.706849	T	0.72843	0.3511	N	0.03608	-0.345	0.09310	N	1	B;P	0.34562	0.424;0.457	B;B	0.38921	0.171;0.285	T	0.65302	-0.6201	10	0.59425	D	0.04	.	3.257	0.06835	0.2574:0.5954:0.0:0.1472	.	94;1102	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	Y	1102	ENSP00000269081:D1102Y	ENSP00000269081:D1102Y	D	-	1	0	ABCA10	64671869	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	0.189000	0.17037	0.014000	0.14944	0.563000	0.77884	GAC		PASS	0.279	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		4	33	4	33	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3116506	3116506	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr18:3116506C>T	ENST00000356443.4	-	21	3459	c.3126G>A	c.(3124-3126)ccG>ccA	p.P1042P	MYOM1_ENST00000400569.3_Silent_p.P1042P|MYOM1_ENST00000261606.7_Silent_p.P946P	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1042	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.P1042P(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGAGACTGTGCGGTGGTCCTG	0.498																																						uc002klp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3124-3126)CCG>CCA		myomesin 1 isoform a							28.0	30.0	29.0					18																	3116506		1893	4118	6011	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3116506C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3126G>A	18.37:g.3116506C>T						MYOM1_uc002klq.2_Silent_p.P946P	p.P1042P	NM_003803	NP_003794	P52179	MYOM1_HUMAN			21	3460	-			1042			Fibronectin type-III 5.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.3126G>A	CCDS45824.1																																																																																				PASS	0.498	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		6	16	6	16	---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23759082	23759082	+	Silent	SNP	T	T	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr18:23759082T>C	ENST00000308268.6	+	6	755	c.666T>C	c.(664-666)aaT>aaC	p.N222N	PSMA8_ENST00000343848.6_Silent_p.N178N|PSMA8_ENST00000415576.2_Silent_p.N216N	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	222					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.N222N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			TAAGAAGAAATCAACCTTTGA	0.318																																						uc002kvq.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(664-666)AAT>AAC		proteasome alpha 8 subunit isoform 1							50.0	57.0	54.0					18																	23759082		2203	4297	6500	SO:0001819	synonymous_variant	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23759082T>C	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.666T>C	18.37:g.23759082T>C						PSMA8_uc002kvo.2_Silent_p.N178N|PSMA8_uc002kvp.2_Silent_p.N216N|PSMA8_uc002kvr.2_Silent_p.N190N	p.N222N	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		6	780	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		222					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Silent	SNP	ENST00000308268.6	37	c.666T>C	CCDS32808.1																																																																																				PASS	0.318	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		60	12	60	12	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28914040	28914040	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr18:28914040G>C	ENST00000257192.4	+	8	1092	c.880G>C	c.(880-882)Gat>Cat	p.D294H		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	294	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.D294H(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAGAGTAATTGATTTGGATGA	0.318																																						uc002kwp.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(880-882)GAT>CAT		desmoglein 1 preproprotein							76.0	84.0	81.0					18																	28914040		2203	4294	6497	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28914040G>C	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.880G>C	18.37:g.28914040G>C	ENSP00000257192:p.Asp294His						p.D294H	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		8	1092	+			294			Extracellular (Potential).|Cadherin 3.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.880G>C	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357132	0.82243	.	.	ENSG00000134760	ENST00000257192	T	0.62105	0.05	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.87629	0.6225	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91330	0.5089	10	0.87932	D	0	.	20.0417	0.97594	0.0:0.0:1.0:0.0	.	294	Q02413	DSG1_HUMAN	H	294	ENSP00000257192:D294H	ENSP00000257192:D294H	D	+	1	0	DSG1	27168038	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	8.125000	0.89590	2.736000	0.93811	0.655000	0.94253	GAT		PASS	0.318	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		11	93	11	93	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67684885	67684885	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr18:67684885G>C	ENST00000255674.6	-	46	6465	c.6179C>G	c.(6178-6180)tCt>tGt	p.S2060C	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2060					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.S2060C(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAATGCTAGAGAGAGGAAGTT	0.343																																						uc002lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(6178-6180)TCT>TGT		rotatin							85.0	79.0	81.0					18																	67684885		1824	4069	5893	SO:0001583	missense	25914						binding	g.chr18:67684885G>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6179C>G	18.37:g.67684885G>C	ENSP00000255674:p.Ser2060Cys					RTTN_uc002lko.2_Intron|RTTN_uc010xfb.1_Missense_Mutation_p.S1148C|RTTN_uc002lkn.2_Missense_Mutation_p.S50C|RTTN_uc010dqp.2_Missense_Mutation_p.S312C	p.S2060C	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			46	6247	-		Esophageal squamous(42;0.129)	2060					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.6179C>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443474	0.63067	.	.	ENSG00000176225	ENST00000255674	T	0.52526	0.66	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.177573	0.37393	N	0.002117	T	0.61800	0.2376	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.62248	-0.6894	10	0.66056	D	0.02	.	15.4133	0.74943	0.0:0.0:0.8603:0.1397	.	2060	Q86VV8	RTTN_HUMAN	C	2060	ENSP00000255674:S2060C	ENSP00000255674:S2060C	S	-	2	0	RTTN	65835865	1.000000	0.71417	0.352000	0.25734	0.851000	0.48451	5.256000	0.65468	2.753000	0.94483	0.557000	0.71058	TCT		PASS	0.343	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		46	11	46	11	---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	76936877	76936877	+	Silent	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr18:76936877G>C	ENST00000426216.2	+	8	860	c.843G>C	c.(841-843)gtG>gtC	p.V281V	ATP9B_ENST00000307671.7_Silent_p.V281V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	281					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V281V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AGGTGGCAGTGAGCTGCACGC	0.448																																						uc002lmx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(841-843)GTG>GTC		ATPase, class II, type 9B							95.0	92.0	93.0					18																	76936877		2203	4300	6503	SO:0001819	synonymous_variant	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76936877G>C	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.843G>C	18.37:g.76936877G>C						ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Silent_p.V281V|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_5'UTR	p.V281V	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	8	857	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	281			Cytoplasmic (Potential).		O60872|Q08AD8|Q08AD9	Silent	SNP	ENST00000426216.2	37	c.843G>C	CCDS12014.1																																																																																				PASS	0.448	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		40	8	40	8	---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77170998	77170999	+	Missense_Mutation	DNP	GC	GC	TT	rs61731548	byFrequency	TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr18:77170998_77170999GC>TT	ENST00000427363.2	+	2	723_724	c.723_724GC>TT	c.(721-726)tcGCcc>tcTTcc	p.P242S	NFATC1_ENST00000253506.5_Missense_Mutation_p.P242S|NFATC1_ENST00000591814.1_Missense_Mutation_p.P242S|NFATC1_ENST00000592223.1_Missense_Mutation_p.P229S|NFATC1_ENST00000318065.5_Missense_Mutation_p.P229S|NFATC1_ENST00000329101.4_Missense_Mutation_p.P229S|NFATC1_ENST00000542384.1_Missense_Mutation_p.P242S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.P229S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P242S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	242	3 X SP repeats.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P229S(2)|p.S228S(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCTCCACCTCGCCCCGCGCCAG	0.713																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(1)|ovary(1)	2						c.(721-723)TCG>TCT|c.(724-726)CCC>TCC		nuclear factor of activated T-cells, cytosolic																																				SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170998G>T|g.chr18:77170999C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	Exception_encountered	18.37:g.77170998_77170999delinsTT	ENSP00000389377:p.Pro242Ser					NFATC1_uc002lnc.1_Silent_p.S241S|NFATC1_uc010xff.1_Silent_p.S241S|NFATC1_uc002lnd.2_Silent_p.S241S|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.S241S|NFATC1_uc010xfi.1_Silent_p.S228S|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.S228S|NFATC1_uc002lng.2_Silent_p.S228S|NFATC1_uc010xfk.1_Silent_p.S228S|NFATC1_uc002lnc.1_Missense_Mutation_p.P242S|NFATC1_uc010xff.1_Missense_Mutation_p.P242S|NFATC1_uc002lnd.2_Missense_Mutation_p.P242S|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.P242S|NFATC1_uc010xfi.1_Missense_Mutation_p.P229S|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.P229S|NFATC1_uc002lng.2_Missense_Mutation_p.P229S|NFATC1_uc010xfk.1_Missense_Mutation_p.P229S	p.S241S|p.P242S	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1176|1177	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	241|242			3 X SP repeats.|2.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent|Missense_Mutation	SNP	ENST00000427363.2	37	c.723G>T|c.724C>T																																																																																					PASS	0.713	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		6	21|20	6	20	---	---	---	---
CIRBP	1153	broad.mit.edu	37	19	1271175	1271175	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:1271175G>T	ENST00000588030.1	+	3	400	c.140G>T	c.(139-141)cGg>cTg	p.R47L	CIRBP_ENST00000585630.1_Missense_Mutation_p.R47L|CIRBP_ENST00000587896.1_Missense_Mutation_p.R47L|CIRBP_ENST00000589710.1_Missense_Mutation_p.R47L|CIRBP_ENST00000589235.1_Missense_Mutation_p.R47L|CIRBP_ENST00000588230.1_Missense_Mutation_p.R47L|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000587323.1_Missense_Mutation_p.R47L|CIRBP_ENST00000586773.1_Missense_Mutation_p.R47L|CIRBP_ENST00000589660.1_Missense_Mutation_p.R47L|CIRBP_ENST00000591935.1_Missense_Mutation_p.R47L|CIRBP_ENST00000588090.1_Missense_Mutation_p.R47L|CIRBP_ENST00000589686.1_Missense_Mutation_p.R47L|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000413636.2_Missense_Mutation_p.R47L|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000586472.1_Missense_Mutation_p.R47L|CIRBP_ENST00000320936.5_Missense_Mutation_p.R47L			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	47	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)	p.R47L(1)		endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		CAGAGATCTCGGGGATTTGGG	0.552																																						uc002lrr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)CGG>CTG		cold inducible RNA binding protein							114.0	116.0	115.0					19																	1271175		2203	4300	6503	SO:0001583	missense	1153				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity	g.chr19:1271175G>T	D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.140G>T	19.37:g.1271175G>T	ENSP00000468788:p.Arg47Leu					C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Missense_Mutation_p.R36L|CIRBP_uc002lrt.2_Missense_Mutation_p.R47L|CIRBP_uc010xgl.1_Missense_Mutation_p.R47L|CIRBP_uc002lrv.3_Missense_Mutation_p.R47L|CIRBP_uc002lru.2_RNA	p.R47L	NM_001280	NP_001271	Q14011	CIRBP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	289	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)	47			RRM.		B3KT17|B4E2X2	Missense_Mutation	SNP	ENST00000588030.1	37	c.140G>T	CCDS12059.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463167	0.63513	.	.	ENSG00000099622	ENST00000320936;ENST00000413636	T;T	0.77098	-1.07;-1.07	4.26	4.26	0.50523	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.86410	0.5926	M	0.69248	2.105	0.80722	D	1	D;D;D;D	0.89917	0.983;0.995;1.0;0.995	D;D;D;D	0.83275	0.96;0.984;0.996;0.984	D	0.88369	0.2993	10	0.87932	D	0	1.7097	15.2777	0.73753	0.0:0.0:1.0:0.0	.	47;47;47;47	B4E2X2;Q53XX5;D6W5Y5;Q14011	.;.;.;CIRBP_HUMAN	L	47	ENSP00000322887:R47L;ENSP00000412831:R47L	ENSP00000322887:R47L	R	+	2	0	CIRBP	1222175	1.000000	0.71417	0.075000	0.20258	0.099000	0.18886	9.619000	0.98369	1.929000	0.55896	0.551000	0.68910	CGG		PASS	0.552	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449969.1	NM_001280		16	24	16	24	---	---	---	---
ZNF57	126295	broad.mit.edu	37	19	2917970	2917970	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:2917970G>C	ENST00000306908.5	+	4	1499	c.1351G>C	c.(1351-1353)Gaa>Caa	p.E451Q	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.E419Q	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	451					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.E451Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATAAATGTGAACACTGTGG	0.433																																					NSCLC(150;910 1964 4303 10464 26498)	uc002lwr.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1351-1353)GAA>CAA		zinc finger protein 57							114.0	103.0	107.0					19																	2917970		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917970G>C	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1351G>C	19.37:g.2917970G>C	ENSP00000303696:p.Glu451Gln					ZNF57_uc010xha.1_Missense_Mutation_p.E419Q	p.E451Q	NM_173480	NP_775751	Q68EA5	ZNF57_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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1499	+			451			C2H2-type 11.		Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1351G>C	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014764	0.35511	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.07688	3.17;3.17	2.57	-2.8	0.05823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04318	0.0119	N	0.24115	0.695	0.09310	N	1	B	0.30068	0.267	B	0.28139	0.086	T	0.40232	-0.9574	9	0.59425	D	0.04	.	0.5319	0.00630	0.3857:0.1789:0.2538:0.1816	.	451	Q68EA5	ZNF57_HUMAN	Q	451;453;419	ENSP00000303696:E451Q;ENSP00000430223:E419Q	ENSP00000303696:E451Q	E	+	1	0	ZNF57	2868970	.	.	0.013000	0.15412	0.158000	0.22134	.	.	-0.339000	0.08401	0.511000	0.50034	GAA		PASS	0.433	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		34	64	34	64	---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4499548	4499548	+	IGR	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:4499548C>T	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_Missense_Mutation_p.L546F|HDGFRP2_ENST00000586684.1_Missense_Mutation_p.L546F	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.L546F(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTATACCCGGCTCAAGTCGCG	0.587																																						uc002mao.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1636-1638)CTC>TTC		hepatoma-derived growth factor-related protein 2							31.0	38.0	35.0					19																	4499548		1948	4117	6065	SO:0001628	intergenic_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4499548C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4499548C>T						HDGFRP2_uc002map.2_Missense_Mutation_p.L546F|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Missense_Mutation_p.L11F|HDGFRP2_uc002maq.1_Missense_Mutation_p.L11F	p.L546F	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN			14	1729	+			546			Potential.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1636C>T	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	6.372	0.436675	0.12104	.	.	ENSG00000167674	ENST00000301284	T	0.31510	1.49	4.2	4.2	0.49525	.	0.086238	0.46758	D	0.000279	T	0.23532	0.0569	N	0.21583	0.68	0.38151	D	0.938741	P;P;P	0.50943	0.94;0.757;0.757	P;P;P	0.51135	0.66;0.654;0.654	T	0.06972	-1.0797	10	0.18710	T	0.47	.	5.2071	0.15297	0.2058:0.6898:0.0:0.1044	.	546;546;546	Q7Z4V5-2;C9JEE1;Q7Z4V5	.;.;HDGR2_HUMAN	F	546	ENSP00000301284:L546F	ENSP00000301284:L546F	L	+	1	0	AC011498.1	4450548	0.978000	0.34361	1.000000	0.80357	0.066000	0.16364	2.052000	0.41316	2.183000	0.69458	0.462000	0.41574	CTC		PASS	0.587	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		7	7	7	7	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9067241	9067241	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:9067241G>A	ENST00000397910.4	-	3	20408	c.20205C>T	c.(20203-20205)atC>atT	p.I6735I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6737	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.I6735I(4)|p.I2368I(2)|p.I6735T(2)|p.I2368T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCGAGTGATGATGGTCATAT	0.512																																						uc002mkp.2																			9	Substitution - coding silent(6)|Substitution - Missense(3)		kidney(6)|lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(20203-20205)ATC>ATT		mucin 16							276.0	271.0	273.0					19																	9067241		2182	4275	6457	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067241G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20205C>T	19.37:g.9067241G>A							p.I6735I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	20409	-			6737			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.20205C>T	CCDS54212.1																																																																																				PASS	0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		73	88	73	88	---	---	---	---
LDLR	3949	broad.mit.edu	37	19	11238705	11238705	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:11238705G>A	ENST00000558518.1	+	16	2520	c.2333G>A	c.(2332-2334)aGa>aAa	p.R778K	LDLR_ENST00000560628.1_Intron|LDLR_ENST00000545707.1_Missense_Mutation_p.R600K|LDLR_ENST00000455727.2_Missense_Mutation_p.R610K|LDLR_ENST00000558013.1_Missense_Mutation_p.R778K|LDLR_ENST00000557933.1_Missense_Mutation_p.R778K|LDLR_ENST00000535915.1_Missense_Mutation_p.R737K	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	778					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.R778K(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GTTGCTGGCAGAGGAAATGAG	0.617																																					GBM(18;201 575 7820 21545)	uc002mqk.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4	GRCh37	CI020899	LDLR	I		c.(2332-2334)AGA>AAA		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						117.0	100.0	106.0					19																	11238705		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11238705G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2333G>A	19.37:g.11238705G>A	ENSP00000454071:p.Arg778Lys					LDLR_uc010xlk.1_Missense_Mutation_p.R778K|LDLR_uc010xll.1_Missense_Mutation_p.R737K|LDLR_uc010xlm.1_Missense_Mutation_p.R631K|LDLR_uc010xln.1_Missense_Mutation_p.R600K|LDLR_uc010xlo.1_Missense_Mutation_p.R610K|LDLR_uc010dxu.2_5'UTR	p.R778K	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	16	2501	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	778			Extracellular (Potential).		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.2333G>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	8.995	0.978584	0.18812	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.89415	-2.5;-2.46;-2.51	4.88	-2.5	0.06384	Growth factor, receptor (1);	0.854004	0.09961	N	0.733372	T	0.74107	0.3673	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.14438	0.002;0.007;0.01;0.004;0.004;0.002	B;B;B;B;B;B	0.09377	0.004;0.004;0.004;0.004;0.003;0.003	T	0.59311	-0.7478	10	0.07175	T	0.84	.	4.8909	0.13726	0.557:0.1721:0.2708:0.0	.	610;600;657;737;790;778	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	K	778;600;737;610	ENSP00000437639:R600K;ENSP00000440520:R737K;ENSP00000397829:R610K	ENSP00000252444:R778K	R	+	2	0	LDLR	11099705	0.000000	0.05858	0.007000	0.13788	0.013000	0.08279	-0.016000	0.12613	-0.132000	0.11557	0.561000	0.74099	AGA		PASS	0.617	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			32	46	32	46	---	---	---	---
OR10H3	26532	broad.mit.edu	37	19	15852340	15852340	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:15852340C>T	ENST00000305892.1	+	1	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I46I(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ACCTTCTTATCATGGCCACAG	0.522																																						uc010xoq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(136-138)ATC>ATT		olfactory receptor, family 10, subfamily H,							364.0	322.0	336.0					19																	15852340		2203	4300	6503	SO:0001819	synonymous_variant	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852340C>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.138C>T	19.37:g.15852340C>T							p.I46I	NM_013938	NP_039226	O60404	O10H3_HUMAN			1	138	+			46			Helical; Name=1; (Potential).		Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	c.138C>T	CCDS12334.1																																																																																				PASS	0.522	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			103	150	103	150	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18965427	18965427	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:18965427G>A	ENST00000599848.1	+	9	1416	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	UPF1_ENST00000262803.5_Missense_Mutation_p.A392T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	403	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A392T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGATGAGATCGCCATTGAGCT	0.522																																						uc002nkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1207-1209)GCC>ACC		regulator of nonsense transcripts 1							191.0	191.0	191.0					19																	18965427		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18965427G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1207G>A	19.37:g.18965427G>A	ENSP00000470142:p.Ala403Thr					UPF1_uc002nkf.2_Missense_Mutation_p.A392T	p.A403T	NM_002911	NP_002902	Q92900	RENT1_HUMAN			9	1482	+			403			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1207G>A		.	.	.	.	.	.	.	.	.	.	G	9.423	1.083501	0.20309	.	.	ENSG00000005007	ENST00000262803	D	0.89485	-2.52	5.02	2.79	0.32731	.	0.053482	0.85682	D	0.000000	T	0.72162	0.3426	N	0.10733	0.035	0.80722	D	1	B;B	0.24768	0.067;0.111	B;B	0.15484	0.006;0.013	T	0.61302	-0.7090	10	0.08179	T	0.78	-29.2739	9.4446	0.38690	0.0797:0.144:0.7763:0.0	.	403;392	Q92900;Q92900-2	RENT1_HUMAN;.	T	392	ENSP00000262803:A392T	ENSP00000262803:A392T	A	+	1	0	UPF1	18826427	1.000000	0.71417	0.224000	0.23877	0.590000	0.36582	9.429000	0.97481	0.484000	0.27630	0.655000	0.94253	GCC		PASS	0.522	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		98	141	98	141	---	---	---	---
NUDT19	390916	broad.mit.edu	37	19	33200258	33200258	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:33200258C>G	ENST00000397061.3	+	2	882	c.882C>G	c.(880-882)atC>atG	p.I294M		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	294						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)	p.I294M(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GGCTGCCGATCATCTTGTTAA	0.458																																						uc010edf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)ATC>ATG		nudix (nucleoside diphosphate linked moiety							156.0	143.0	147.0					19																	33200258		1944	4137	6081	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200258C>G		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.882C>G	19.37:g.33200258C>G	ENSP00000380251:p.Ile294Met						p.I294M	NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN			2	882	+	Esophageal squamous(110;0.137)		294						Missense_Mutation	SNP	ENST00000397061.3	37	c.882C>G	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386265	0.42308	.	.	ENSG00000213965	ENST00000397061	T	0.48522	0.81	4.88	1.42	0.22433	.	0.078140	0.48286	U	0.000186	T	0.58293	0.2112	M	0.74881	2.28	0.09310	N	1	D	0.76494	0.999	D	0.66196	0.942	T	0.44742	-0.9308	10	0.45353	T	0.12	-15.6486	4.6739	0.12703	0.1832:0.619:0.0:0.1978	.	294	A8MXV4	NUD19_HUMAN	M	294	ENSP00000380251:I294M	ENSP00000380251:I294M	I	+	3	3	NUDT19	37892098	0.009000	0.17119	0.012000	0.15200	0.016000	0.09150	-0.132000	0.10467	0.524000	0.28502	0.591000	0.81541	ATC		PASS	0.458	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		29	94	29	94	---	---	---	---
CHST8	64377	broad.mit.edu	37	19	34263812	34263812	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:34263812C>G	ENST00000262622.4	+	4	1877	c.1119C>G	c.(1117-1119)ttC>ttG	p.F373L	CHST8_ENST00000434302.1_Missense_Mutation_p.F373L|CHST8_ENST00000438847.3_Missense_Mutation_p.F373L	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	373					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.F373L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TCCCCCGGTTCAAGGACCGGC	0.622																																						uc002nus.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1117-1119)TTC>TTG		carbohydrate (N-acetylgalactosamine 4-0)							50.0	47.0	48.0					19																	34263812		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263812C>G	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1119C>G	19.37:g.34263812C>G	ENSP00000262622:p.Phe373Leu					CHST8_uc002nut.3_Missense_Mutation_p.F373L|CHST8_uc002nuu.2_Missense_Mutation_p.F373L	p.F373L	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	1624	+	Esophageal squamous(110;0.162)		373			Lumenal (Potential).		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.1119C>G	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361283	0.61403	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.73047	-0.71;-0.71;-0.71	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	L	0.39245	1.2	0.47153	D	0.999338	P	0.46395	0.877	P	0.53988	0.739	T	0.67345	-0.5694	10	0.33141	T	0.24	-24.7277	9.2529	0.37566	0.0:0.8329:0.0:0.1671	.	373	Q9H2A9	CHST8_HUMAN	L	373	ENSP00000392604:F373L;ENSP00000393879:F373L;ENSP00000262622:F373L	ENSP00000262622:F373L	F	+	3	2	CHST8	38955652	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	0.960000	0.29253	2.331000	0.79229	0.297000	0.19635	TTC		PASS	0.622	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		24	15	24	15	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47219577	47219577	+	Silent	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:47219577C>A	ENST00000291281.4	-	1	276	c.51G>T	c.(49-51)ccG>ccT	p.P17P	PRKD2_ENST00000433867.1_Silent_p.P17P|PRKD2_ENST00000600194.1_5'Flank|PRKD2_ENST00000595515.1_Silent_p.P17P|PRKD2_ENST00000601806.1_Intron			Q9BZL6	KPCD2_HUMAN	protein kinase D2	17					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.P17P(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAGGAGACCCCGGCCCGGGAG	0.771																																						uc002pfh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(49-51)CCG>CCT		protein kinase D2 isoform A							7.0	10.0	9.0					19																	47219577		1992	3993	5985	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47219577C>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.51G>T	19.37:g.47219577C>A						PRKD2_uc002pfg.2_5'Flank|PRKD2_uc002pfi.2_Silent_p.P17P|PRKD2_uc002pfj.2_Silent_p.P17P|PRKD2_uc010xye.1_Silent_p.P17P|PRKD2_uc002pfk.2_Intron	p.P17P	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	2	393	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	17					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.51G>T	CCDS12689.1																																																																																				PASS	0.771	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		8	14	8	14	---	---	---	---
JOSD2	126119	broad.mit.edu	37	19	51013560	51013560	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:51013560G>A	ENST00000598418.1	-	2	382	c.129C>T	c.(127-129)gcC>gcT	p.A43A	JOSD2_ENST00000391815.3_Silent_p.A43A|JOSD2_ENST00000601423.1_Silent_p.A43A|JOSD2_ENST00000595669.1_Silent_p.A43A|ASPDH_ENST00000597030.1_5'Flank	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	43	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.A43A(1)		kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		AGATCTCATCGGCAGCCTCCT	0.662																																						uc002psn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(127-129)GCC>GCT		Josephin domain containing 2							55.0	51.0	52.0					19																	51013560		2203	4300	6503	SO:0001819	synonymous_variant	126119				protein deubiquitination		ubiquitin-specific protease activity	g.chr19:51013560G>A	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.129C>T	19.37:g.51013560G>A						JOSD2_uc002pso.1_Silent_p.A43A|JOSD2_uc002psp.1_Silent_p.A43A|JOSD2_uc002psq.1_Silent_p.A43A	p.A43A	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	2	160	-		all_neural(266;0.131)	43			Josephin.		M0QX25	Silent	SNP	ENST00000598418.1	37	c.129C>T	CCDS12797.1																																																																																				PASS	0.662	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	NM_138334		27	29	27	29	---	---	---	---
SIGLEC6	946	broad.mit.edu	37	19	52034597	52034597	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:52034597C>G	ENST00000425629.3	-	2	398	c.244G>C	c.(244-246)Gac>Cac	p.D82H	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.D46H|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.D82H|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.D82H|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.D82H|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.D82H|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	82	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.D82H(1)|p.D71H(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ACTTCTTCGTCTGGGTCGTTT	0.587																																						uc002pwy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(244-246)GAC>CAC		sialic acid binding Ig-like lectin 6 isoform 1							67.0	73.0	71.0					19																	52034597		2196	4299	6495	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034597C>G	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.244G>C	19.37:g.52034597C>G	ENSP00000401502:p.Asp82His					SIGLEC6_uc002pwz.2_Missense_Mutation_p.D82H|SIGLEC6_uc002pxa.2_Missense_Mutation_p.D82H|SIGLEC6_uc010ydb.1_Missense_Mutation_p.D35H|SIGLEC6_uc010ydc.1_Missense_Mutation_p.D71H|SIGLEC6_uc010eoz.1_Missense_Mutation_p.D71H|SIGLEC6_uc010epb.1_Missense_Mutation_p.D35H|SIGLEC6_uc010epa.1_Missense_Mutation_p.D71H	p.D82H	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	406	-		all_neural(266;0.0199)	82			Extracellular (Potential).|Ig-like V-type.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.244G>C	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	6.295	0.422583	0.11928	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	3.19	-6.37	0.01963	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	3.378830	0.01086	N	0.005084	T	0.46288	0.1385	L	0.39898	1.24	0.09310	N	1	B;B;B;B;B;B;B	0.12013	0.001;0.001;0.001;0.0;0.001;0.003;0.005	B;B;B;B;B;B;B	0.12837	0.004;0.004;0.008;0.003;0.002;0.006;0.007	T	0.24548	-1.0157	10	0.45353	T	0.12	.	1.7263	0.02922	0.1388:0.224:0.4075:0.2298	.	82;46;82;82;82;82;82	F8WA78;C9JBE5;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;.;SIGL6_HUMAN	H	71;82;82;82;46;82;82	ENSP00000375674:D82H;ENSP00000401502:D82H;ENSP00000353071:D82H;ENSP00000410679:D46H;ENSP00000345907:D82H	ENSP00000345907:D82H	D	-	1	0	SIGLEC6	56726409	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.951000	0.01529	-0.622000	0.05626	-1.870000	0.00554	GAC		PASS	0.587	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		24	44	24	44	---	---	---	---
ZNF613	79898	broad.mit.edu	37	19	52448967	52448967	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:52448967G>A	ENST00000293471.6	+	6	2510	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N	ZNF613_ENST00000391794.4_Missense_Mutation_p.D575N|ZNF613_ENST00000601794.1_Intron	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	611			D -> V (in dbSNP:rs16983253).		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.D611N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGTCTCAGCAGATAGTAGAAT	0.418																																						uc002pxz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1831-1833)GAT>AAT		zinc finger protein 613 isoform 1							66.0	61.0	63.0					19																	52448967		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448967G>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1831G>A	19.37:g.52448967G>A	ENSP00000293471:p.Asp611Asn					ZNF613_uc002pya.1_Missense_Mutation_p.D575N	p.D611N	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	2254	+		all_neural(266;0.117)	611					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1831G>A	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	7.634	0.679491	0.14907	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.06218	3.42;3.33	3.02	0.898	0.19264	.	.	.	.	.	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.11329	0.006	T	0.46359	-0.9197	9	0.02654	T	1	.	3.3314	0.07085	0.2548:0.2224:0.5228:0.0	.	611	Q6PF04	ZN613_HUMAN	N	611;575;285	ENSP00000293471:D611N;ENSP00000375671:D575N	ENSP00000293471:D611N	D	+	1	0	ZNF613	57140779	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-0.589000	0.05767	0.329000	0.23460	-0.140000	0.14226	GAT		PASS	0.418	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		12	19	12	19	---	---	---	---
MYADM	91663	broad.mit.edu	37	19	54377415	54377415	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:54377415C>T	ENST00000391769.2	+	3	912	c.632C>T	c.(631-633)gCc>gTc	p.A211V	MYADM_ENST00000391770.4_Missense_Mutation_p.A211V|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391768.2_Missense_Mutation_p.A211V|MYADM_ENST00000336967.3_Missense_Mutation_p.A211V|MYADM_ENST00000391771.1_Missense_Mutation_p.A211V	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	211	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.A211V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GCGGTGTACGCCATCTGCTTC	0.637																																						uc002qcl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(631-633)GCC>GTC		myeloid-associated differentiation marker							151.0	129.0	137.0					19																	54377415		2203	4300	6503	SO:0001583	missense	91663					integral to membrane		g.chr19:54377415C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.632C>T	19.37:g.54377415C>T	ENSP00000375649:p.Ala211Val					MYADM_uc002qcm.2_Missense_Mutation_p.A211V|MYADM_uc002qcn.2_Missense_Mutation_p.A211V|MYADM_uc002qco.2_Missense_Mutation_p.A211V|MYADM_uc002qcp.2_Missense_Mutation_p.A211V	p.A211V	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	780	+	Ovarian(34;0.19)		211			MARVEL 2.|Helical; (Potential).		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.632C>T	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888431	0.52014	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95	4.28	3.1	0.35709	Marvel (1);MARVEL-like domain (1);	0.287014	0.32593	N	0.005887	T	0.17874	0.0429	L	0.49640	1.575	0.27224	N	0.959571	B	0.23735	0.09	B	0.24006	0.05	T	0.09164	-1.0687	10	0.23302	T	0.38	-23.9516	10.0209	0.42041	0.0:0.6183:0.3817:0.0	.	211	Q96S97	MYADM_HUMAN	V	211;211;211;211;211;174;211;211	ENSP00000398269:A211V;ENSP00000337222:A211V;ENSP00000375650:A211V;ENSP00000416919:A211V;ENSP00000375651:A211V;ENSP00000375649:A211V;ENSP00000375648:A211V	ENSP00000337222:A211V	A	+	2	0	MYADM	59069227	1.000000	0.71417	0.948000	0.38648	0.784000	0.44337	4.026000	0.57232	2.133000	0.65898	0.306000	0.20318	GCC		PASS	0.637	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		25	84	25	84	---	---	---	---
ZNF606	80095	broad.mit.edu	37	19	58489707	58489707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr19:58489707G>A	ENST00000341164.4	-	7	2961	c.2341C>T	c.(2341-2343)Caa>Taa	p.Q781*	ZNF606_ENST00000536132.1_Nonsense_Mutation_p.Q691*	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	781					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q781*(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTCTGGTGTTGAAGTAGGGCT	0.373																																						uc002qqw.2																			2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2341-2343)CAA>TAA		zinc finger protein 606							94.0	87.0	90.0					19																	58489707		2203	4300	6503	SO:0001587	stop_gained	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58489707G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2341C>T	19.37:g.58489707G>A	ENSP00000343617:p.Gln781*					ZNF606_uc010yhp.1_Nonsense_Mutation_p.Q691*	p.Q781*	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2959	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	781			C2H2-type 16.		A8KAN2|Q8NE04|Q96JH5	Nonsense_Mutation	SNP	ENST00000341164.4	37	c.2341C>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640725	0.96693	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	.	.	.	4.77	4.77	0.60923	.	0.000000	0.41500	D	0.000864	.	.	.	.	.	.	0.31394	N	0.677489	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2847	0.21027	0.0922:0.0:0.7231:0.1847	.	.	.	.	X	781;691	.	ENSP00000343617:Q781X	Q	-	1	0	ZNF606	63181519	0.000000	0.05858	0.283000	0.24790	0.965000	0.64279	0.822000	0.27352	2.621000	0.88768	0.650000	0.86243	CAA		PASS	0.373	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		49	68	49	68	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1961091	1961091	+	Missense_Mutation	SNP	G	G	A	rs267606939		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr20:1961091G>A	ENST00000217305.2	-	4	868	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	PDYN_ENST00000540134.1_Missense_Mutation_p.R215C|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R215C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	215			R -> C (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, resulting in an approximately 2-fold decreased level of dynorphin B compared to dynorphin A; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect). {ECO:0000269|PubMed:21035104}.		cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R215C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTTGGGACGAATGCGCCGC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16293	0.0		0.0	False		,,,				2504	0.0					uc010gaj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(643-645)CGT>TGT		beta-neoendorphin-dynorphin preproprotein							103.0	114.0	110.0					20																	1961091		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961091G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.643C>T	20.37:g.1961091G>A	ENSP00000217305:p.Arg215Cys					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R215C|PDYN_uc010zpt.1_Missense_Mutation_p.R60C	p.R215C	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	885	-			215		R -> C (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, resulting in an approximately 2-fold decreased level of dynorphin B compared to dynorphin A; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect).			A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.643C>T	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817729	0.90790	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.85556	-2.0;-2.0;-2.0	5.0	5.0	0.66597	.	0.126887	0.56097	D	0.000039	D	0.93304	0.7866	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94306	0.7541	10	0.87932	D	0	-7.6245	15.8394	0.78835	0.0:0.0:1.0:0.0	.	215	P01213	PDYN_HUMAN	C	215	ENSP00000440185:R215C;ENSP00000442259:R215C;ENSP00000217305:R215C	ENSP00000217305:R215C	R	-	1	0	PDYN	1909091	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.273000	0.72581	2.603000	0.88011	0.313000	0.20887	CGT		PASS	0.587	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			66	52	66	52	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50342415	50342415	+	Silent	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr20:50342415G>A	ENST00000338821.5	-	3	534	c.270C>T	c.(268-270)tgC>tgT	p.C90C	ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000402822.1_Silent_p.C90C|ATP9A_ENST00000311637.5_Silent_p.C75C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	90					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.C90C(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAAACTGAGAGCAGGCAAGAA	0.438																																						uc002xwg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(268-270)TGC>TGT		ATPase, class II, type 9A							93.0	90.0	91.0					20																	50342415		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50342415G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.270C>T	20.37:g.50342415G>A						ATP9A_uc010gih.1_Silent_p.C75C	p.C90C	NM_006045	NP_006036	O75110	ATP9A_HUMAN			3	270	-			90			Helical; (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.270C>T	CCDS33489.1																																																																																				PASS	0.438	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		8	19	8	19	---	---	---	---
PCK1	5105	broad.mit.edu	37	20	56140109	56140109	+	Silent	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr20:56140109C>A	ENST00000319441.4	+	9	1496	c.1332C>A	c.(1330-1332)gtC>gtA	p.V444V	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Silent_p.V127V	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	444					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.V444V(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCCCTCTAGTCTATGAAGCTC	0.458																																						uc002xyn.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1330-1332)GTC>GTA		cytosolic phosphoenolpyruvate carboxykinase 1							81.0	93.0	89.0					20																	56140109		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56140109C>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1332C>A	20.37:g.56140109C>A						PCK1_uc010zzm.1_Silent_p.V127V	p.V444V	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		9	1495	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		444					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.1332C>A	CCDS13460.1																																																																																				PASS	0.458	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			17	34	17	34	---	---	---	---
RPS21	6227	broad.mit.edu	37	20	60963410	60963410	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr20:60963410A>T	ENST00000343986.4	+	5	271	c.232A>T	c.(232-234)Atc>Ttc	p.I78F	RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000370562.1_3'UTR|RPS21_ENST00000450116.2_Missense_Mutation_p.I78F	NM_001024.3	NP_001015.1	P63220	RS21_HUMAN	ribosomal protein S21	78					cellular protein metabolic process (GO:0044267)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000461)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|structural constituent of ribosome (GO:0003735)	p.I78F(1)		endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCCGATGGCATCGTCTCAAA	0.488																																						uc002ycr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)ATC>TTC		ribosomal protein S21							131.0	112.0	118.0					20																	60963410		2203	4300	6503	SO:0001583	missense	6227				endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome	g.chr20:60963410A>T	L04483	CCDS13497.1	20q13.3	2011-04-05			ENSG00000171858	ENSG00000171858		"""S ribosomal proteins"""	10409	protein-coding gene	gene with protein product	"""8.2 kDa differentiation factor"""	180477				8332502, 9582194	Standard	NM_001024		Approved	S21	uc002ycr.3	P63220	OTTHUMG00000032915	ENST00000343986.4:c.232A>T	20.37:g.60963410A>T	ENSP00000345957:p.Ile78Phe					RPS21_uc002ycs.2_Missense_Mutation_p.I78F|RPS21_uc002yct.2_3'UTR|RPS21_uc002ycu.2_Missense_Mutation_p.I78F	p.I78F	NM_001024	NP_001015	P63220	RS21_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		5	322	+	Breast(26;2.05e-08)		78					P35265	Missense_Mutation	SNP	ENST00000343986.4	37	c.232A>T	CCDS13497.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.67|16.67	3.188241|3.188241	0.57909|0.57909	.|.	.|.	ENSG00000171858|ENSG00000171858	ENST00000337102|ENST00000317311;ENST00000343986;ENST00000450116	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.33419|.	U|.	0.004932|.	T|T	0.51381|0.51381	0.1671|0.1671	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	.|B	.|0.34061	.|0.436	.|B	.|0.36289	.|0.221	T|T	0.51949|0.51949	-0.8640|-0.8640	6|7	0.22109|0.39692	T|T	0.4|0.17	-2.7924|-2.7924	13.2735|13.2735	0.60175|0.60175	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|78	.|P63220	.|RS21_HUMAN	L|F	77|78	.|.	ENSP00000337019:H77L|ENSP00000324438:I78F	H|I	+|+	2|1	0|0	RPS21|RPS21	60396805|60396805	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.650000|0.650000	0.38633|0.38633	4.867000|4.867000	0.63013|0.63013	2.011000|2.011000	0.59026|0.59026	0.533000|0.533000	0.62120|0.62120	CAT|ATC		PASS	0.488	RPS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080031.2	NM_001024		7	9	7	9	---	---	---	---
CABLES2	81928	broad.mit.edu	37	20	60969315	60969315	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr20:60969315C>T	ENST00000279101.5	-	5	620	c.612G>A	c.(610-612)ctG>ctA	p.L204L		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	204					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.L204L(1)		endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGTCCACCCTCAGGTCACTGC	0.637																																						uc002ycv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(610-612)CTG>CTA		Cdk5 and Abl enzyme substrate 2							60.0	55.0	57.0					20																	60969315		2203	4300	6503	SO:0001819	synonymous_variant	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60969315C>T	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.612G>A	20.37:g.60969315C>T							p.L204L	NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		5	619	-	Breast(26;2.05e-08)		204					Q5JWL0|Q9BYK0	Silent	SNP	ENST00000279101.5	37	c.612G>A	CCDS33503.1																																																																																				PASS	0.637	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		7	14	7	14	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41648044	41648044	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr21:41648044G>A	ENST00000400454.1	-	11	2813	c.2336C>T	c.(2335-2337)tCc>tTc	p.S779F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	779	Ig-like C2-type 8.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S779F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGGTACATGGACTTGCTGAC	0.468																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(2335-2337)TCC>TTC		Down syndrome cell adhesion molecule isoform							100.0	105.0	103.0					21																	41648044		2067	4249	6316	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41648044G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2336C>T	21.37:g.41648044G>A	ENSP00000383303:p.Ser779Phe					DSCAM_uc002yyr.1_RNA	p.S779F	NM_001389	NP_001380	O60469	DSCAM_HUMAN			11	2788	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	779			Extracellular (Potential).|Ig-like C2-type 8.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2336C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207344	0.79240	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69435	-0.4;-0.4	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.121554	0.64402	D	0.000020	T	0.71702	0.3371	L	0.48362	1.52	0.52099	D	0.99994	D	0.54397	0.966	P	0.55923	0.787	T	0.63821	-0.6550	10	0.09590	T	0.72	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	779	O60469	DSCAM_HUMAN	F	779;531	ENSP00000383303:S779F;ENSP00000385342:S531F	ENSP00000383303:S779F	S	-	2	0	DSCAM	40569914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.283000	0.65621	2.729000	0.93468	0.650000	0.86243	TCC		PASS	0.468	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		59	12	59	12	---	---	---	---
ADRBK2	157	broad.mit.edu	37	22	26083535	26083535	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr22:26083535C>T	ENST00000324198.6	+	11	1050	c.858C>T	c.(856-858)caC>caT	p.H286H		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.H286H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TTTCACAACACGGTGTGTTCT	0.403																																						uc003abx.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7						c.(856-858)CAC>CAT		beta-adrenergic receptor kinase 2	Adenosine triphosphate(DB00171)						158.0	127.0	138.0					22																	26083535		2203	4300	6503	SO:0001819	synonymous_variant	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26083535C>T	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.858C>T	22.37:g.26083535C>T						ADRBK2_uc010gux.2_Silent_p.H286H|ADRBK2_uc003abw.2_Silent_p.H173H|ADRBK2_uc003aby.3_RNA	p.H286H	NM_005160	NP_005151	P35626	ARBK2_HUMAN			11	1005	+			286			Protein kinase.		Q9UGW9	Silent	SNP	ENST00000324198.6	37	c.858C>T	CCDS13832.1																																																																																				PASS	0.403	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		27	60	27	60	---	---	---	---
TFIP11	24144	broad.mit.edu	37	22	26902880	26902880	+	Missense_Mutation	SNP	G	G	A	rs151208617		TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr22:26902880G>A	ENST00000407690.1	-	5	507	c.224C>T	c.(223-225)tCt>tTt	p.S75F	TFIP11_ENST00000407148.1_Missense_Mutation_p.S75F|TFIP11_ENST00000407431.1_Missense_Mutation_p.S75F|TFIP11_ENST00000405938.1_Missense_Mutation_p.S75F|TFIP11_ENST00000496523.1_5'Flank	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	75					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)	p.S75F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GACTGGCGCAGAGTAGTCACG	0.522																																						uc003acr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)TCT>TTT		tuftelin interacting protein 11							57.0	54.0	55.0					22																	26902880		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26902880G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.224C>T	22.37:g.26902880G>A	ENSP00000384421:p.Ser75Phe					TFIP11_uc003acs.2_Missense_Mutation_p.S75F|TFIP11_uc003act.2_Missense_Mutation_p.S75F	p.S75F	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			4	598	-			75					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.224C>T	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956915	0.73902	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938;ENST00000455080;ENST00000418876;ENST00000420242	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.91	5.91	0.95273	.	0.108090	0.64402	D	0.000004	T	0.65312	0.2679	M	0.82193	2.58	0.80722	D	1	P	0.39624	0.681	P	0.48030	0.564	T	0.68500	-0.5392	10	0.87932	D	0	-22.2272	18.8623	0.92278	0.0:0.0:1.0:0.0	.	75	Q9UBB9	TFP11_HUMAN	F	75	ENSP00000384421:S75F;ENSP00000383892:S75F;ENSP00000385861:S75F;ENSP00000384297:S75F	ENSP00000384297:S75F	S	-	2	0	TFIP11	25232880	1.000000	0.71417	0.945000	0.38365	0.675000	0.39556	5.804000	0.69135	2.793000	0.96121	0.655000	0.94253	TCT		PASS	0.522	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		18	58	18	58	---	---	---	---
XBP1	7494	broad.mit.edu	37	22	29192074	29192074	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr22:29192074G>C	ENST00000216037.6	-	4	632	c.560C>G	c.(559-561)tCc>tGc	p.S187C	XBP1_ENST00000344347.5_Silent_p.L178L|XBP1_ENST00000405219.3_Missense_Mutation_p.S137C|XBP1_ENST00000403532.3_Missense_Mutation_p.S192C	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	187					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S187C(1)|p.L178L(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AATCCATGGGGAGATGTTCTG	0.512																																						uc011akl.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	breast(1)	1						c.(532-534)CTC>CTG		X-box binding protein 1 isoform XBP1(S)							140.0	151.0	147.0					22																	29192074		2203	4300	6503	SO:0001583	missense	7494				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:29192074G>C	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.560C>G	22.37:g.29192074G>C	ENSP00000216037:p.Ser187Cys					XBP1_uc003aec.2_5'UTR|XBP1_uc003aed.2_Missense_Mutation_p.S137C|XBP1_uc003aef.2_5'UTR	p.L178L	NM_001079539	NP_001073007	P17861	XBP1_HUMAN			5	582	-			Error:Variant_position_missing_in_P17861_after_alignment					Q8WYK6|Q969P1|Q96BD7	Silent	SNP	ENST00000216037.6	37	c.534C>G	CCDS13847.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857968	0.51376	.	.	ENSG00000100219	ENST00000216037;ENST00000403532;ENST00000405219	.	.	.	5.76	3.67	0.42095	.	.	.	.	.	T	0.75049	0.3797	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.76252	-0.3027	7	0.72032	D	0.01	.	10.172	0.42915	0.0749:0.1375:0.7877:0.0	.	137	B1AHH1	.	C	187;192;137	.	ENSP00000216037:S187C	S	-	2	0	XBP1	27522074	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	6.050000	0.71063	0.764000	0.33197	-0.150000	0.13652	TCC		PASS	0.512	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		5	175	5	175	---	---	---	---
RAC2	5880	broad.mit.edu	37	22	37628865	37628865	+	Silent	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr22:37628865G>C	ENST00000249071.6	-	3	322	c.201C>G	c.(199-201)ctC>ctG	p.L67L	RAC2_ENST00000405484.1_Silent_p.L60L|RAC2_ENST00000406508.1_Silent_p.L23L	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	67					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L67L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	AGAGCGGCCGGAGACGGTCGT	0.597																																						uc003arc.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|central_nervous_system(1)|skin(1)	4						c.(199-201)CTC>CTG		ras-related C3 botulinum toxin substrate 2							90.0	62.0	72.0					22																	37628865		2203	4300	6503	SO:0001819	synonymous_variant	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37628865G>C	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.201C>G	22.37:g.37628865G>C							p.L67L	NM_002872	NP_002863	P15153	RAC2_HUMAN			3	318	-			67					Q9UDJ4	Silent	SNP	ENST00000249071.6	37	c.201C>G	CCDS13945.1																																																																																				PASS	0.597	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			7	38	7	38	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44028021	44028021	+	Silent	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr22:44028021C>T	ENST00000262726.7	-	19	2449	c.2196G>A	c.(2194-2196)ctG>ctA	p.L732L	EFCAB6_ENST00000396231.2_Silent_p.L580L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	732					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L732L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGAAAAGCTTCAGGCATTCTT	0.567																																						uc003bdy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(2194-2196)CTG>CTA		CAP-binding protein complex interacting protein							113.0	115.0	114.0					22																	44028021		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44028021C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2196G>A	22.37:g.44028021C>T						EFCAB6_uc003bdz.1_Silent_p.L580L|EFCAB6_uc010gzi.1_Silent_p.L580L|EFCAB6_uc010gzj.1_Silent_p.L30L|EFCAB6_uc010gzk.1_RNA	p.L732L	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			19	2411	-		Ovarian(80;0.0247)|all_neural(38;0.025)	732					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.2196G>A	CCDS14049.1																																																																																				PASS	0.567	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		53	124	53	124	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51160628	51160628	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr22:51160628C>G	ENST00000414786.2	+	21	4552	c.4325C>G	c.(4324-4326)tCt>tGt	p.S1442C	SHANK3_ENST00000262795.3_Missense_Mutation_p.S1472C|SHANK3_ENST00000445220.2_Missense_Mutation_p.S1458C			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1456					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.S1472C(1)|p.S565C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGCTGGCCTCTGCCGCCGGG	0.711																																						uc003bne.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(4414-4416)TCT>TGT		SH3 and multiple ankyrin repeat domains 3							9.0	12.0	11.0					22																	51160628		1923	4055	5978	SO:0001583	missense	85358							g.chr22:51160628C>G	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4325C>G	22.37:g.51160628C>G	ENSP00000464552:p.Ser1442Cys					SHANK3_uc003bnf.1_Missense_Mutation_p.S919C|SHANK3_uc010hbg.1_Missense_Mutation_p.S654C	p.S1472C	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	22	4415	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1472					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.4415C>G		.	.	.	.	.	.	.	.	.	.	C	16.18	3.050035	0.55218	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.42131	0.98;1.0	5.01	5.01	0.66863	.	1.218520	0.05882	N	0.626714	T	0.57417	0.2052	L	0.40543	1.245	0.30275	N	0.791927	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.65573	0.936;0.867;0.936	T	0.48822	-0.9001	10	0.35671	T	0.21	.	13.8427	0.63449	0.0:1.0:0.0:0.0	.	1456;1457;1472	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	C	1472;1458	ENSP00000442518:S1472C;ENSP00000446078:S1458C	ENSP00000442518:S1472C	S	+	2	0	SHANK3	49507494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.038000	0.64177	2.336000	0.79503	0.563000	0.77884	TCT		PASS	0.711	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		6	12	6	12	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21670577	21670577	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chrX:21670577G>A	ENST00000379510.3	+	22	3079	c.3043G>A	c.(3043-3045)Gaa>Aaa	p.E1015K	CNKSR2_ENST00000425654.2_Missense_Mutation_p.E985K	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	1015					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E1015K(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TATTTCTTCTGAAGTAGATGT	0.398																																						uc004czx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(3043-3045)GAA>AAA		connector enhancer of kinase suppressor of Ras							178.0	150.0	159.0					X																	21670577		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21670577G>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.3043G>A	X.37:g.21670577G>A	ENSP00000368824:p.Glu1015Lys					CNKSR2_uc011mjo.1_Missense_Mutation_p.E985K	p.E1015K	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			22	3079	+			1015					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.3043G>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047773	0.55110	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.15952	2.38;2.38	5.8	5.8	0.92144	.	0.208524	0.42821	D	0.000646	T	0.22666	0.0547	L	0.46157	1.445	0.80722	D	1	P;P	0.46395	0.842;0.877	B;B	0.43194	0.169;0.411	T	0.00647	-1.1628	10	0.59425	D	0.04	-11.2014	19.0114	0.92874	0.0:0.0:1.0:0.0	.	985;1015	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	K	985;1015	ENSP00000397906:E985K;ENSP00000368824:E1015K	ENSP00000368824:E1015K	E	+	1	0	CNKSR2	21580498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.208000	0.89748	2.439000	0.82584	0.544000	0.68410	GAA		PASS	0.398	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		37	8	37	8	---	---	---	---
HDX	139324	broad.mit.edu	37	X	83723533	83723533	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chrX:83723533G>C	ENST00000297977.5	-	3	1309	c.1198C>G	c.(1198-1200)Cat>Gat	p.H400D	HDX_ENST00000506585.2_Missense_Mutation_p.H342D|HDX_ENST00000373177.2_Missense_Mutation_p.H400D	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	400						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H400D(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GATGCAAAATGAGGAGAAAAA	0.318																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1198-1200)CAT>GAT		highly divergent homeobox							117.0	97.0	104.0					X																	83723533		2202	4300	6502	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83723533G>C	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1198C>G	X.37:g.83723533G>C	ENSP00000297977:p.His400Asp					HDX_uc011mqv.1_Missense_Mutation_p.H400D|HDX_uc004eel.1_Missense_Mutation_p.H342D	p.H400D	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	1307	-			400					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1198C>G	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	2.066	-0.414178	0.04766	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.31510	1.5;1.49;1.5	5.19	4.3	0.51218	.	0.408682	0.25040	N	0.033602	T	0.27594	0.0678	L	0.54323	1.7	0.37353	D	0.910883	B	0.20052	0.041	B	0.16722	0.016	T	0.14420	-1.0473	10	0.08381	T	0.77	-6.4738	14.1814	0.65577	0.0:0.0:0.8491:0.1509	.	400	Q7Z353	HDX_HUMAN	D	400;342;400	ENSP00000297977:H400D;ENSP00000362272:H342D;ENSP00000423670:H400D	ENSP00000297977:H400D	H	-	1	0	HDX	83610189	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	4.764000	0.62264	0.928000	0.37168	0.415000	0.27848	CAT		PASS	0.318	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		33	3	33	3	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91132573	91132573	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chrX:91132573C>A	ENST00000373094.1	+	2	2179	c.1334C>A	c.(1333-1335)cCt>cAt	p.P445H	PCDH11X_ENST00000395337.2_Missense_Mutation_p.P445H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P445H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P445H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P445H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P445H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P445H|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P445H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P445H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P445H(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGCAAACCTCCTTTGAATCAG	0.403																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(1333-1335)CCT>CAT		protocadherin 11 X-linked isoform c							44.0	41.0	42.0					X																	91132573		2202	4286	6488	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132573C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1334C>A	X.37:g.91132573C>A	ENSP00000362186:p.Pro445His					PCDH11X_uc004efl.1_Missense_Mutation_p.P445H|PCDH11X_uc004efo.1_Missense_Mutation_p.P445H|PCDH11X_uc010nmv.1_Missense_Mutation_p.P445H|PCDH11X_uc004efm.1_Missense_Mutation_p.P445H|PCDH11X_uc004efn.1_Missense_Mutation_p.P445H|PCDH11X_uc004efh.1_Missense_Mutation_p.P445H|PCDH11X_uc004efj.1_Missense_Mutation_p.P445H	p.P445H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2179	+			445			Cadherin 4.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1334C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474309	0.26423	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.108723	0.64402	D	0.000005	T	0.79131	0.4394	M	0.92169	3.28	0.47621	D	0.999477	D;D;D;D;D;D;D;D	0.89917	0.999;0.96;0.999;0.999;0.999;1.0;0.999;0.998	D;P;D;D;D;D;D;D	0.76071	0.967;0.879;0.978;0.978;0.978;0.987;0.952;0.914	D	0.85087	0.0949	10	0.87932	D	0	.	16.5733	0.84630	0.0:1.0:0.0:0.0	.	445;445;445;445;445;445;445;445	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	H	445	ENSP00000378746:P445H;ENSP00000362186:P445H;ENSP00000362189:P445H;ENSP00000355040:P445H;ENSP00000362180:P445H;ENSP00000423762:P445H;ENSP00000355105:P445H;ENSP00000384758:P445H;ENSP00000298274:P445H	ENSP00000298274:P445H	P	+	2	0	PCDH11X	91019229	1.000000	0.71417	1.000000	0.80357	0.208000	0.24298	5.826000	0.69293	2.115000	0.64714	0.544000	0.68410	CCT		PASS	0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		81	5	81	5	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150911982	150911982	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chrX:150911982C>T	ENST00000329903.4	+	6	1040	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	336					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.T336I(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTGACTCTCACTACCATTGGG	0.507																																						uc004fey.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1006-1008)ACT>ATT		cyclic nucleotide gated channel alpha 2							175.0	173.0	174.0					X																	150911982		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911982C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1007C>T	X.37:g.150911982C>T	ENSP00000328478:p.Thr336Ile						p.T336I	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1231	+	Acute lymphoblastic leukemia(192;6.56e-05)		336			Cytoplasmic (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1007C>T	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953970	0.53293	.	.	ENSG00000183862	ENST00000329903	D	0.98876	-5.2	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.85859	2.78	0.51767	D	0.999935	D	0.89917	1.0	D	0.91635	0.999	D	0.99533	1.0961	10	0.87932	D	0	.	14.8649	0.70406	0.0:1.0:0.0:0.0	.	336	Q16280	CNGA2_HUMAN	I	336	ENSP00000328478:T336I	ENSP00000328478:T336I	T	+	2	0	CNGA2	150662638	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.445000	0.80570	2.183000	0.69458	0.529000	0.55759	ACT		PASS	0.507	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		102	8	102	8	---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16327913	16327915	+	In_Frame_Del	DEL	TGA	TGA	-	rs11969612|rs369629396	byFrequency	TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr6:16327913_16327915delTGA	ENST00000244769.4	-	8	1563_1565	c.627_629delTCA	c.(625-630)catcag>cag	p.H209del	ATXN1_ENST00000436367.1_In_Frame_Del_p.H209del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	209	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgatgctgatgctgctgct	0.665																																						uc003nbt.2																			3	Deletion - In frame(3)		upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)	skin(3)|central_nervous_system(1)	4						c.(625-630)CATCAG>CAG		ataxin 1			,|,	615,313,2022|637,2259		169,39,238,43,188,798|112,413,923					,|,		0.0|0.0		dbSNP_130	7|7	1006,693,4879|752,5866		252,19,483,15,644,1876|24,704,2581	no|no	codingComplex,codingComplex|coding,coding	ATXN1|ATXN1	NM_001128164.1,NM_000332.3|NM_001128164.1,NM_000332.3	,|,	421,58,721,58,832,2674|136,1117,3504	A1A1,A1A2,A1R,A2A2,A2R,RR|A1A1,A1R,RR		25.8285,31.4576,27.5714|11.3629,21.9959,14.5995	,|,	,|,		1621,1006,6901|1389,8125				SO:0001651	inframe_deletion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327913_16327915delTGA	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.627_629delTCA	6.37:g.16327913_16327915delTGA	ENSP00000244769:p.His209del					ATXN1_uc010jpi.2_In_Frame_Del_p.H209del|ATXN1_uc010jpj.1_Intron	p.H209del	NM_000332	NP_000323	P54253	ATX1_HUMAN			8	1598_1600	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	209			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	ENST00000244769.4	37	c.627_629delTCA	CCDS34342.1																																																																																					0.665	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		2	6	2	6	---	---	---	---
CPED1	79974	broad.mit.edu	37	7	120911387	120911388	+	Frame_Shift_Ins	INS	-	-	A	rs141494536	byFrequency	TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr7:120911387_120911388insA	ENST00000310396.5	+	22	3238_3239	c.2771_2772insA	c.(2770-2775)gcaaaafs	p.AK924fs		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	924						endoplasmic reticulum (GO:0005783)											CTGGATACTGCAAAAAAACATG	0.351																																						uc003vjq.3																			0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2770-2772)GCAfs		hypothetical protein LOC79974 isoform 1																																				SO:0001589	frameshift_variant	79974					endoplasmic reticulum		g.chr7:120911387_120911388insA		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2778dupA	7.37:g.120911394_120911394dupA	ENSP00000309772:p.Ala924fs						p.A924fs	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			22	3218_3219	+	all_neural(327;0.117)		924					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Frame_Shift_Ins	INS	ENST00000310396.5	37	c.2771_2772insA	CCDS34739.1																																																																																					0.351	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		89	39	89	39	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135012363	135012363	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-5477-01A-01D-1632-08	TCGA-22-5477-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e7ebc6fb-0926-4c8a-a67b-0c6b9c1ffaba	186fabc6-490c-4d90-ad23-ce9ad326fc1b	g.chr10:135012363delC	ENST00000304613.3	+	14	2372	c.2351delC	c.(2350-2352)gccfs	p.A784fs	KNDC1_ENST00000368572.2_Frame_Shift_Del_p.A784fs|KNDC1_ENST00000368571.2_Frame_Shift_Del_p.A719fs			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	784	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCAGTCCCCGCCCCGCCCACG	0.736																																						uc001llz.1																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2350-2352)GCCfs		kinase non-catalytic C-lobe domain (KIND)							5.0	6.0	6.0					10																	135012363		1930	3978	5908	SO:0001589	frameshift_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135012363delC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2351delC	10.37:g.135012363delC	ENSP00000304437:p.Ala784fs					KNDC1_uc001lma.1_Frame_Shift_Del_p.A719fs|KNDC1_uc001lmb.1_Frame_Shift_Del_p.A196fs	p.A784fs	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	14	2352	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	784			Pro-rich.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Frame_Shift_Del	DEL	ENST00000304613.3	37	c.2351delC	CCDS7674.1																																																																																					0.736	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		4	2	4	2	---	---	---	---
