#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DOCK7	85440	broad.mit.edu	37	1	63048923	63048923	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:63048923T>C	ENST00000340370.5	-	16	1820	c.1803A>G	c.(1801-1803)gtA>gtG	p.V601V	DOCK7_ENST00000251157.5_Silent_p.V601V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	601	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TACCAAAGATTACCTGAAACA	0.299																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(1801-1803)gtA>gtG		dedicator of cytokinesis 7							94.0	102.0	99.0					1																	63048923		2202	4300	6502	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63048923T>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1803A>G	1.37:g.63048923T>C						DOCK7_ENST00000340370.5_Silent_p.V601V	p.V601V	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			16	1836	-			601			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.1803A>G	CCDS30734.1																																																																																				0.299	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		4	124	0	0	0	1	0	4	124				
FAT3	120114	broad.mit.edu	37	11	92543011	92543011	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:92543011G>A	ENST00000298047.6	+	12	9267	c.9250G>A	c.(9250-9252)Gag>Aag	p.E3084K	FAT3_ENST00000525166.1_Missense_Mutation_p.E2934K|FAT3_ENST00000409404.2_Missense_Mutation_p.E3084K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3084	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCACAGGCGAGTTAAAAAC	0.478										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(9250-9252)Gag>Aag		FAT atypical cadherin 3							67.0	64.0	65.0					11																	92543011		1843	4088	5931	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92543011G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9250G>A	11.37:g.92543011G>A	ENSP00000298047:p.Glu3084Lys	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.E3084K|FAT3_ENST00000525166.1_Missense_Mutation_p.E2934K	p.E3084K			Q8TDW7	FAT3_HUMAN			12	9267	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3084			Cadherin 28.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9250G>A		.	.	.	.	.	.	.	.	.	.	G	29.9	5.045496	0.93685	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01705	4.68;4.68;4.68	5.4	4.48	0.54585	.	.	.	.	.	T	0.10337	0.0253	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.21724	-1.0237	9	0.26408	T	0.33	.	16.1021	0.81178	0.0:0.1342:0.8658:0.0	.	3084	Q8TDW7-3	.	K	3084;3084;2934	ENSP00000298047:E3084K;ENSP00000387040:E3084K;ENSP00000432586:E2934K	ENSP00000298047:E3084K	E	+	1	0	FAT3	92182659	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	7.912000	0.87465	1.249000	0.43950	0.563000	0.77884	GAG		0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	20	0	0	0	1	0	4	20				
CCDC146	57639	broad.mit.edu	37	7	76885704	76885704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:76885704G>T	ENST00000285871.4	+	6	689	c.562G>T	c.(562-564)Gaa>Taa	p.E188*	CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	188										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATTACGTAAAGAAATAATGCA	0.294																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(562-564)Gaa>Taa		coiled-coil domain containing 146							45.0	47.0	46.0					7																	76885704		2203	4296	6499	SO:0001587	stop_gained	57639							g.chr7:76885704G>T	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.562G>T	7.37:g.76885704G>T	ENSP00000285871:p.Glu188*					CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	p.E188*	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			6	689	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	188					A8K8X6|Q9P223	Nonsense_Mutation	SNP	ENST00000285871.4	37	c.562G>T	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	G	38	6.857808	0.97889	.	.	ENSG00000135205	ENST00000285871	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-24.2753	19.1462	0.93469	0.0:0.0:1.0:0.0	.	.	.	.	X	188	.	ENSP00000285871:E188X	E	+	1	0	AC007000.1	76723640	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	6.678000	0.74508	2.817000	0.96982	0.563000	0.77884	GAA		0.294	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		6	26	1	0	0.217242	1	0.221053	6	26				
UBR4	23352	broad.mit.edu	37	1	19480294	19480294	+	Nonsense_Mutation	SNP	G	G	A	rs267598259		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:19480294G>A	ENST00000375254.3	-	45	6625	c.6598C>T	c.(6598-6600)Cag>Tag	p.Q2200*	UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.Q2200*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2200					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTAATCTCCTGGATAAGAAAA	0.458																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(6598-6600)Cag>Tag		ubiquitin protein ligase E3 component n-recognin 4							99.0	101.0	100.0					1																	19480294		2203	4300	6503	SO:0001587	stop_gained	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19480294G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6598C>T	1.37:g.19480294G>A	ENSP00000364403:p.Gln2200*					UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q2200*	p.Q2200*			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	45	6601	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2200					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	c.6598C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	47	13.200288	0.99726	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.6837	0.91556	0.0:0.0:1.0:0.0	.	.	.	.	X	2200;2200;2200;2200;910;1417	.	ENSP00000364365:Q2200X	Q	-	1	0	UBR4	19352881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.025000	0.93694	2.894000	0.99253	0.591000	0.81541	CAG		0.458	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		27	66	0	0	0	1	0	27	66				
PDE1C	5137	broad.mit.edu	37	7	31920468	31920468	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:31920468C>T	ENST00000396191.1	-	3	589	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	PDE1C_ENST00000321453.7_Missense_Mutation_p.R45Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R45Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R105Q|PDE1C_ENST00000396184.3_Missense_Mutation_p.R45Q	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	45					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GACCAAAGACCGTAATCTAGA	0.328																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(133-135)cGg>cAg		phosphodiesterase 1C, calmodulin-dependent 70kDa							111.0	107.0	108.0					7																	31920468		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31920468C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.134G>A	7.37:g.31920468C>T	ENSP00000379494:p.Arg45Gln					PDE1C_ENST00000396182.2_Missense_Mutation_p.R45Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R45Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R105Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R45Q	p.R45Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		4	338	-			45					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.134G>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195039	0.94960	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	T;T;T;T;T	0.80393	-1.37;-1.23;-1.23;-1.15;-1.15	5.43	5.43	0.79202	.	0.466541	0.24922	N	0.034522	D	0.89210	0.6650	M	0.72894	2.215	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;0.999	D;D;P	0.68353	0.918;0.957;0.851	D	0.89663	0.3878	10	0.72032	D	0.01	.	19.1911	0.93667	0.0:1.0:0.0:0.0	.	45;105;45	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	Q	105;45;45;45;45;45	ENSP00000379496:R105Q;ENSP00000379494:R45Q;ENSP00000318105:R45Q;ENSP00000379487:R45Q;ENSP00000379485:R45Q	ENSP00000318105:R45Q	R	-	2	0	PDE1C	31886993	1.000000	0.71417	0.985000	0.45067	0.624000	0.37722	7.752000	0.85141	2.713000	0.92767	0.591000	0.81541	CGG		0.328	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			7	72	0	0	0	1	0	7	72				
AHNAK	79026	broad.mit.edu	37	11	62296740	62296740	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:62296740T>A	ENST00000378024.4	-	5	5423	c.5149A>T	c.(5149-5151)Atg>Ttg	p.M1717L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1717					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)			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)				AACTTGGGCATTTTCATCTTG	0.507																																						ENST00000378024.4																			0				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						c.(5149-5151)Atg>Ttg		AHNAK nucleoprotein							211.0	218.0	216.0					11																	62296740		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296740T>A	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.5149A>T	11.37:g.62296740T>A	ENSP00000367263:p.Met1717Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.M1717L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	5423	-		Melanoma(852;0.155)	1717					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5149A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461695	0.26248	.	.	ENSG00000124942	ENST00000378024	T	0.01221	5.15	3.9	1.32	0.21799	.	0.000000	0.44902	U	0.000414	T	0.03520	0.0101	L	0.59967	1.855	0.28100	N	0.931443	P	0.34826	0.471	P	0.50791	0.65	T	0.25710	-1.0124	10	0.13470	T	0.59	.	10.1562	0.42825	0.0:0.0:0.3215:0.6785	.	1717	Q09666	AHNK_HUMAN	L	1717	ENSP00000367263:M1717L	ENSP00000367263:M1717L	M	-	1	0	AHNAK	62053316	0.943000	0.32029	0.420000	0.26596	0.170000	0.22686	0.994000	0.29693	0.018000	0.15052	0.254000	0.18369	ATG		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	299	0	0	0	1	0	8	299				
CAPN7	23473	broad.mit.edu	37	3	15292459	15292459	+	Missense_Mutation	SNP	G	G	T	rs575083078		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr3:15292459G>T	ENST00000253693.2	+	20	2479	c.2226G>T	c.(2224-2226)gaG>gaT	p.E742D		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	742	Domain N.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTGGATTTGAGGTTGTAACAG	0.333																																						ENST00000253693.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						c.(2224-2226)gaG>gaT		calpain 7							155.0	152.0	153.0					3																	15292459		2203	4300	6503	SO:0001583	missense	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15292459G>T	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.2226G>T	3.37:g.15292459G>T	ENSP00000253693:p.Glu742Asp						p.E742D	NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN			20	2479	+			742			Domain N.			Missense_Mutation	SNP	ENST00000253693.2	37	c.2226G>T	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925821	0.34002	.	.	ENSG00000131375	ENST00000253693	D	0.87412	-2.25	6.04	-1.28	0.09318	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.045721	0.85682	D	0.000000	T	0.77068	0.4076	L	0.34521	1.04	0.58432	D	0.999991	B	0.14012	0.009	B	0.18871	0.023	T	0.61559	-0.7038	10	0.22706	T	0.39	-27.3609	11.3399	0.49527	0.7855:0.0:0.2145:0.0	.	742	Q9Y6W3	CAN7_HUMAN	D	742	ENSP00000253693:E742D	ENSP00000253693:E742D	E	+	3	2	CAPN7	15267463	1.000000	0.71417	0.932000	0.37286	0.848000	0.48234	1.367000	0.34204	-0.114000	0.11936	-0.781000	0.03364	GAG		0.333	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		3	78	1	0	1	1	1	3	78				
ZNF689	115509	broad.mit.edu	37	16	30616438	30616438	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr16:30616438C>T	ENST00000287461.3	-	3	987	c.650G>A	c.(649-651)cGc>cAc	p.R217H	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	217					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GAGGTTCTTGCGCTGGGAGAA	0.607																																						ENST00000287461.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(649-651)cGc>cAc		zinc finger protein 689							89.0	80.0	83.0					16																	30616438		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616438C>T	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.650G>A	16.37:g.30616438C>T	ENSP00000287461:p.Arg217His					RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	p.R217H	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	987	-			217					Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.650G>A	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	c	17.51	3.407875	0.62399	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.15834	2.39	4.75	3.77	0.43336	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38663	N	0.001615	T	0.25082	0.0609	L	0.41356	1.27	0.32610	N	0.524687	D	0.76494	0.999	P	0.59357	0.856	T	0.08126	-1.0737	10	0.36615	T	0.2	-21.8544	11.0471	0.47865	0.0:0.9065:0.0:0.0935	.	217	Q96CS4	ZN689_HUMAN	H	217	ENSP00000287461:R217H	ENSP00000287461:R217H	R	-	2	0	ZNF689	30523939	0.000000	0.05858	1.000000	0.80357	0.854000	0.48673	0.477000	0.22196	2.469000	0.83416	0.455000	0.32223	CGC		0.607	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		16	43	0	0	0	1	0	16	43				
CBWD6	644019	broad.mit.edu	37	9	69238296	69238296	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr9:69238296A>C	ENST00000377457.5	-	8	701	c.596T>G	c.(595-597)aTc>aGc	p.I199S	CBWD6_ENST00000382399.4_Missense_Mutation_p.I179S|CBWD6_ENST00000377449.1_Missense_Mutation_p.I163S	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	199							ATP binding (GO:0005524)			lung(4)	4						AATGAGAATGATATCTGCCAA	0.308																																						ENST00000377457.5																			0				lung(4)	4						c.(595-597)aTc>aGc		COBW domain containing 6							95.0	135.0	120.0					9																	69238296		1332	2285	3617	SO:0001583	missense	644019						ATP binding	g.chr9:69238296A>C		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.596T>G	9.37:g.69238296A>C	ENSP00000366677:p.Ile199Ser					CBWD6_ENST00000382399.4_Missense_Mutation_p.I179S|CBWD6_ENST00000377449.1_Missense_Mutation_p.I163S	p.I199S	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN			8	701	-			199						Missense_Mutation	SNP	ENST00000377457.5	37	c.596T>G	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.320341	0.23994	.	.	ENSG00000204790	ENST00000377457;ENST00000377449;ENST00000382399;ENST00000377445	T;T;T	0.52057	0.68;0.68;0.68	2.49	2.49	0.30216	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.266919	0.35615	N	0.003084	T	0.45397	0.1340	M	0.62209	1.925	0.29652	N	0.843866	B	0.23316	0.083	B	0.32289	0.143	T	0.52381	-0.8583	10	0.72032	D	0.01	-9.2062	8.5159	0.33246	1.0:0.0:0.0:0.0	.	199	Q4V339	CBWD6_HUMAN	S	199;163;179;199	ENSP00000366677:I199S;ENSP00000366668:I163S;ENSP00000371836:I179S	ENSP00000366664:I199S	I	-	2	0	CBWD6	68528116	1.000000	0.71417	0.997000	0.53966	0.568000	0.35870	6.532000	0.73825	1.150000	0.42419	0.155000	0.16302	ATC		0.308	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		11	152	0	0	0	1	0	11	152				
IFI16	3428	broad.mit.edu	37	1	159002391	159002391	+	Nonsense_Mutation	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:159002391T>A	ENST00000295809.7	+	7	1494	c.1239T>A	c.(1237-1239)taT>taA	p.Y413*	IFI16_ENST00000448393.2_Nonsense_Mutation_p.Y413*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Y361*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Y357*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.Y413*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.Y413*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.Y413*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	413			Y -> N (in dbSNP:rs1057028). {ECO:0000269|PubMed:12894224, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.6}.		activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AGCTTCCATATCCTTCAGAGG	0.458																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1237-1239)taT>taA		interferon, gamma-inducible protein 16							129.0	121.0	124.0					1																	159002391		2203	4300	6503	SO:0001587	stop_gained	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159002391T>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1239T>A	1.37:g.159002391T>A	ENSP00000295809:p.Tyr413*					IFI16_ENST00000368131.4_Nonsense_Mutation_p.Y413*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.Y413*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.Y413*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Y361*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Y357*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.Y413*	p.Y413*			Q16666	IF16_HUMAN			7	1494	+	all_hematologic(112;0.0429)		413		Y -> N (in dbSNP:rs1057028).			B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Nonsense_Mutation	SNP	ENST00000295809.7	37	c.1239T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.608190|5.608190	0.96626|0.96626	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|.	.|.	.|.	2.14|2.14	-2.42|-2.42	0.06542|0.06542	.|.	.|.	.|.	.|.	.|.	T|.	0.11707|.	0.0285|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26608|.	-1.0098|.	3|.	.|0.37606	.|T	.|0.19	.|.	2.3042|2.3042	0.04170|0.04170	0.313:0.0:0.1891:0.4979|0.313:0.0:0.1891:0.4979	.|.	.|.	.|.	.|.	N|X	234|413;413;413;413;361	.|.	.|ENSP00000295809:Y413X	I|Y	+|+	2|3	0|2	IFI16|IFI16	157269015|157269015	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.626000|-0.626000	0.05527|0.05527	-0.590000|-0.590000	0.05866|0.05866	-0.714000|-0.714000	0.03626|0.03626	ATC|TAT		0.458	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		8	35	0	0	0	1	0	8	35				
ABHD6	57406	broad.mit.edu	37	3	58279458	58279458	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr3:58279458T>G	ENST00000478253.1	+	10	1481	c.980T>G	c.(979-981)gTg>gGg	p.V327G	ABHD6_ENST00000295962.4_Missense_Mutation_p.V327G			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	327					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TTAGCTTCTGTGCACAACACA	0.537																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(979-981)gTg>gGg		abhydrolase domain containing 6							86.0	75.0	78.0					3																	58279458		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58279458T>G	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.980T>G	3.37:g.58279458T>G	ENSP00000420315:p.Val327Gly					ABHD6_ENST00000295962.4_Missense_Mutation_p.V327G	p.V327G			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	10	1481	+			327					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.980T>G	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.788740	0.49997	.	.	ENSG00000163686	ENST00000478253;ENST00000295962	D;D	0.81996	-1.56;-1.56	5.84	3.44	0.39384	.	0.311519	0.34853	N	0.003640	T	0.73976	0.3656	L	0.41906	1.305	0.51012	D	0.999905	B	0.27380	0.177	B	0.28553	0.091	T	0.65434	-0.6169	10	0.37606	T	0.19	-9.9948	7.9954	0.30265	0.0:0.0713:0.1369:0.7918	.	327	Q9BV23	ABHD6_HUMAN	G	327	ENSP00000420315:V327G;ENSP00000295962:V327G	ENSP00000295962:V327G	V	+	2	0	ABHD6	58254498	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	3.839000	0.55835	0.459000	0.27016	0.533000	0.62120	GTG		0.537	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		10	36	0	0	0	1	0	10	36				
CCL11	6356	broad.mit.edu	37	17	32614638	32614638	+	Missense_Mutation	SNP	G	G	A	rs56358892		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr17:32614638G>A	ENST00000305869.3	+	3	364	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	75					actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TATCTGTGCCGACCCCAAGAA	0.423																																						ENST00000305869.3																			0				breast(1)|lung(1)|prostate(1)	3						c.(223-225)Gac>Aac		chemokine (C-C motif) ligand 11							77.0	71.0	73.0					17																	32614638		2203	4300	6503	SO:0001583	missense	6356				cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity	g.chr17:32614638G>A	AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"""Chemokine ligands"", ""Endogenous ligands"""	10610	protein-coding gene	gene with protein product	"""eotaxin-1"""	601156	"""small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"""	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.223G>A	17.37:g.32614638G>A	ENSP00000302234:p.Asp75Asn						p.D75N	NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	3	364	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	75					P50877|Q92490|Q92491	Missense_Mutation	SNP	ENST00000305869.3	37	c.223G>A	CCDS11279.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129359	0.56721	.	.	ENSG00000172156	ENST00000305869	T	0.04317	3.65	5.1	3.12	0.35913	Chemokine interleukin-8-like domain (3);	0.000000	0.56097	D	0.000031	T	0.11623	0.0283	.	.	.	0.28630	N	0.907725	D	0.89917	1.0	D	0.63793	0.918	T	0.02301	-1.1180	9	0.38643	T	0.18	.	7.1568	0.25643	0.1921:0.0:0.8079:0.0	rs56358892	75	P51671	CCL11_HUMAN	N	75	ENSP00000302234:D75N	ENSP00000302234:D75N	D	+	1	0	CCL11	29638751	0.319000	0.24607	0.990000	0.47175	0.591000	0.36615	0.386000	0.20702	1.525000	0.49052	0.561000	0.74099	GAC		0.423	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986		6	28	0	0	0	1	0	6	28				
PLXNC1	10154	broad.mit.edu	37	12	94641683	94641683	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr12:94641683C>A	ENST00000258526.4	+	13	2642	c.2393C>A	c.(2392-2394)tCt>tAt	p.S798Y		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	798					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTCCAGGTCTCTGAATATTGT	0.423																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2392-2394)tCt>tAt		plexin C1							124.0	130.0	128.0					12																	94641683		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641683C>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2393C>A	12.37:g.94641683C>A	ENSP00000258526:p.Ser798Tyr						p.S798Y	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			13	2642	+			798					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2393C>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421098	0.62622	.	.	ENSG00000136040	ENST00000258526	T	0.80994	-1.44	5.94	5.05	0.67936	Cell surface receptor IPT/TIG (2);	1.171210	0.05849	N	0.620769	D	0.83830	0.5339	L	0.29908	0.895	0.80722	D	1	D	0.65815	0.995	P	0.60541	0.876	T	0.75158	-0.3416	10	0.66056	D	0.02	.	11.9242	0.52810	0.0:0.9211:0.0:0.0789	.	798	O60486	PLXC1_HUMAN	Y	798	ENSP00000258526:S798Y	ENSP00000258526:S798Y	S	+	2	0	PLXNC1	93165814	1.000000	0.71417	0.998000	0.56505	0.544000	0.35116	1.399000	0.34566	2.820000	0.97059	0.650000	0.86243	TCT		0.423	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			6	106	1	0	0.0293803	1	0.0309829	6	106				
TBC1D4	9882	broad.mit.edu	37	13	75923344	75923344	+	Missense_Mutation	SNP	G	G	C	rs375499221	byFrequency	TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr13:75923344G>C	ENST00000377636.3	-	5	1716	c.1370C>G	c.(1369-1371)cCg>cGg	p.P457R	TBC1D4_ENST00000431480.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P457R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	457	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.P457R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGAGTGCATCGGGCAGGCCTC	0.478																																						ENST00000377636.3																			1	Substitution - Missense(1)	p.P457R(1)	breast(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1369-1371)cCg>cGg		TBC1 domain family, member 4							69.0	69.0	69.0					13																	75923344		1931	4129	6060	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75923344G>C	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1370C>G	13.37:g.75923344G>C	ENSP00000366863:p.Pro457Arg					TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P457R	p.P457R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	5	1716	-		Prostate(6;0.014)|Breast(118;0.0982)	457			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.1370C>G	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025993	0.93518	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.19669	2.2;2.13;2.26	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.52125	0.1715	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.50750	-0.8791	10	0.87932	D	0	-22.5512	20.5875	0.99426	0.0:0.0:1.0:0.0	.	457;457;457	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	R	457	ENSP00000366863:P457R;ENSP00000395986:P457R;ENSP00000366852:P457R	ENSP00000366852:P457R	P	-	2	0	TBC1D4	74821345	1.000000	0.71417	0.979000	0.43373	0.955000	0.61496	9.326000	0.96389	2.861000	0.98227	0.643000	0.83706	CCG		0.478	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		4	66	0	0	0	1	0	4	66				
C11orf30	56946	broad.mit.edu	37	11	76257110	76257110	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:76257110T>C	ENST00000529032.1	+	19	3543	c.3543T>C	c.(3541-3543)acT>acC	p.T1181T	C11orf30_ENST00000524490.1_Silent_p.T1083T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000334736.3_Silent_p.T1181T|C11orf30_ENST00000524767.1_Silent_p.T1196T|C11orf30_ENST00000533248.1_Silent_p.T1090T|C11orf30_ENST00000525038.1_Silent_p.T1182T|C11orf30_ENST00000525919.1_Silent_p.T1182T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1181					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCATGCTCACTGGTGAAGCAG	0.468																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(3541-3543)acT>acC		chromosome 11 open reading frame 30							90.0	89.0	89.0					11																	76257110		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257110T>C	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3543T>C	11.37:g.76257110T>C						C11orf30_ENST00000334736.3_Silent_p.T1181T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Silent_p.T1090T|C11orf30_ENST00000524490.1_Silent_p.T1083T|C11orf30_ENST00000525038.1_Silent_p.T1182T|C11orf30_ENST00000524767.1_Silent_p.T1196T|C11orf30_ENST00000525919.1_Silent_p.T1182T	p.T1181T			Q7Z589	EMSY_HUMAN			19	3543	+			1181					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.3543T>C	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	T	3.830	-0.036049	0.07497	.	.	ENSG00000158636	ENST00000531793	.	.	.	5.53	4.39	0.52855	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61028	-0.7145	4	.	.	.	-3.7938	12.1326	0.53952	0.0:0.0:0.2708:0.7292	.	.	.	.	P	40	.	.	L	+	2	0	C11orf30	75934758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.924000	0.40065	1.090000	0.41315	0.528000	0.53228	CTG		0.468	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		29	30	0	0	0	1	0	29	30				
KCTD16	57528	broad.mit.edu	37	5	143853387	143853387	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr5:143853387G>T	ENST00000507359.3	+	3	2088	c.997G>T	c.(997-999)Gtg>Ttg	p.V333L	KCTD16_ENST00000512467.1_Missense_Mutation_p.V333L	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	333					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CTGTGGTCCCGTGACACGCCA	0.587																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(997-999)Gtg>Ttg		potassium channel tetramerization domain containing 16							87.0	81.0	83.0					5																	143853387		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853387G>T	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.997G>T	5.37:g.143853387G>T	ENSP00000426548:p.Val333Leu					KCTD16_ENST00000512467.1_Missense_Mutation_p.V333L	p.V333L	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	2088	+		all_hematologic(541;0.118)	333					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.997G>T	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609002	0.87258	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.44482	0.92;0.92	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.51007	0.1649	N	0.14661	0.345	0.58432	D	0.999998	D	0.63880	0.993	D	0.69479	0.964	T	0.55127	-0.8189	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	333	Q68DU8	KCD16_HUMAN	L	333	ENSP00000424151:V333L;ENSP00000426548:V333L	ENSP00000426548:V333L	V	+	1	0	KCTD16	143833580	1.000000	0.71417	0.972000	0.41901	0.973000	0.67179	9.363000	0.97131	2.941000	0.99782	0.655000	0.94253	GTG		0.587	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		3	46	1	0	0.150653	1	0.156034	3	46				
PCLO	27445	broad.mit.edu	37	7	82580216	82580216	+	Missense_Mutation	SNP	G	G	A	rs372228421		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:82580216G>A	ENST00000333891.9	-	6	10025	c.9688C>T	c.(9688-9690)Cgc>Tgc	p.R3230C	PCLO_ENST00000423517.2_Missense_Mutation_p.R3230C|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGCAAAGCGCTGTTGCTTA	0.438																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9688-9690)Cgc>Tgc		piccolo presynaptic cytomatrix protein		G	CYS/ARG,CYS/ARG	1,3711		0,1,1855	67.0	65.0	66.0		9688,9688	4.6	1.0	7		66	1,8209		0,1,4104	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	180,180	0,2,5959	AA,AG,GG		0.0122,0.0269,0.0168	possibly-damaging,possibly-damaging	3230/4936,3230/5143	82580216	2,11920	1856	4105	5961	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580216G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9688C>T	7.37:g.82580216G>A	ENSP00000334319:p.Arg3230Cys					PCLO_ENST00000333891.8_Missense_Mutation_p.R3230C	p.R3230C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	10025	-			3161			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9688C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.318314	0.01320	2.69E-4	1.22E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.27557	1.66;1.68	5.45	4.56	0.56223	.	.	.	.	.	T	0.26304	0.0642	L	0.55213	1.73	0.80722	D	1	B;P;P	0.36249	0.002;0.545;0.545	B;B;B	0.22386	0.001;0.039;0.039	T	0.09907	-1.0653	9	0.87932	D	0	.	12.9995	0.58667	0.0:0.0:0.706:0.294	.	3161;3230;3230	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	C	3161;3230;3230	ENSP00000334319:R3230C;ENSP00000388393:R3230C	ENSP00000334319:R3230C	R	-	1	0	PCLO	82418152	1.000000	0.71417	0.997000	0.53966	0.022000	0.10575	2.955000	0.49121	1.288000	0.44600	-0.521000	0.04368	CGC		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		14	37	0	0	0	1	0	14	37				
GIMAP4	55303	broad.mit.edu	37	7	150269711	150269711	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:150269711C>T	ENST00000255945.2	+	3	728	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	GIMAP4_ENST00000461940.1_Missense_Mutation_p.R199C|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	185	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTCGGTGACCGCTACTGTGC	0.517																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(553-555)Cgc>Tgc		GTPase, IMAP family member 4							99.0	99.0	99.0					7																	150269711		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269711C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.553C>T	7.37:g.150269711C>T	ENSP00000255945:p.Arg185Cys					GIMAP4_ENST00000461940.1_Missense_Mutation_p.R199C|GIMAP4_ENST00000494750.1_3'UTR	p.R185C	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	728	+			185						Missense_Mutation	SNP	ENST00000255945.2	37	c.553C>T	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951952	0.53293	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.22945	1.93;1.93	4.72	3.76	0.43208	AIG1 (1);	0.059132	0.64402	D	0.000002	T	0.57198	0.2037	H	0.94423	3.535	0.09310	N	0.999995	D;D	0.89917	1.0;0.995	D;D	0.74023	0.982;0.911	T	0.54866	-0.8229	10	0.87932	D	0	.	9.1422	0.36910	0.2337:0.7663:0.0:0.0	.	199;185	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	C	185;199;117	ENSP00000255945:R185C;ENSP00000419545:R199C	ENSP00000255945:R185C	R	+	1	0	GIMAP4	149900644	0.001000	0.12720	0.168000	0.22838	0.002000	0.02628	0.149000	0.16243	2.473000	0.83533	0.655000	0.94253	CGC		0.517	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		6	90	0	0	0	1	0	6	90				
TTN	7273	broad.mit.edu	37	2	179635207	179635207	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr2:179635207A>G	ENST00000591111.1	-	35	8536	c.8312T>C	c.(8311-8313)aTc>aCc	p.I2771T	TTN_ENST00000460472.2_Missense_Mutation_p.I2725T|TTN_ENST00000589042.1_Missense_Mutation_p.I2771T|TTN_ENST00000360870.5_Missense_Mutation_p.I2771T|TTN_ENST00000342992.6_Missense_Mutation_p.I2771T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I2725T|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I2725T			Q8WZ42	TITIN_HUMAN	titin	13097			I -> M (in a breast infiltrating ductal carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATCCACGATGGCACAGTT	0.433																																						ENST00000589042.1																			0				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						c.(8311-8313)aTc>aCc		titin							113.0	112.0	112.0					2																	179635207		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635207A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8312T>C	2.37:g.179635207A>G	ENSP00000465570:p.Ile2771Thr					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I2771T|TTN_ENST00000360870.5_Missense_Mutation_p.I2771T|TTN_ENST00000359218.5_Missense_Mutation_p.I2725T|TTN_ENST00000342992.6_Missense_Mutation_p.I2771T|TTN_ENST00000342175.6_Missense_Mutation_p.I2725T|TTN_ENST00000460472.2_Missense_Mutation_p.I2725T	p.I2771T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		35	8536	-			2509		I -> M (in a breast infiltrating ductal carcinoma sample; somatic mutation).			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.8312T>C		.	.	.	.	.	.	.	.	.	.	A	9.934	1.215677	0.22373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	6.06	4.9	0.64082	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55226	0.1907	N	0.04018	-0.295	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.002	T	0.52147	-0.8614	9	0.87932	D	0	.	12.3952	0.55380	0.9338:0.0:0.0662:0.0	.	2725;2725;2725;2771;2771	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2771;2725;2725;2725;2725;2771	ENSP00000343764:I2771T;ENSP00000434586:I2725T;ENSP00000340554:I2725T;ENSP00000352154:I2725T;ENSP00000354117:I2771T	ENSP00000340554:I2725T	I	-	2	0	TTN	179343452	0.933000	0.31639	0.017000	0.16124	0.939000	0.58152	5.275000	0.65575	2.315000	0.78130	0.533000	0.62120	ATC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	96	0	0	0	1	0	4	96				
ADAMTS12	81792	broad.mit.edu	37	5	33658389	33658389	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr5:33658389A>T	ENST00000504830.1	-	7	1425	c.1090T>A	c.(1090-1092)Tct>Act	p.S364T	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S364T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	364	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAAGGTGAGACAGGCCCAGG	0.507										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1090-1092)Tct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 12							138.0	139.0	139.0					5																	33658389		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33658389A>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1090T>A	5.37:g.33658389A>T	ENSP00000422554:p.Ser364Thr	HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S364T	p.S364T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			7	1425	-			364			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1090T>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	32	5.106424	0.94292	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.87029	-2.2;-2.2	6.17	6.17	0.99709	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	L	0.35542	1.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	D	0.91363	0.5113	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	364;364	P58397-3;P58397	.;ATS12_HUMAN	T	364	ENSP00000422554:S364T;ENSP00000344847:S364T	ENSP00000344847:S364T	S	-	1	0	ADAMTS12	33694146	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TCT		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		30	50	0	0	0	1	0	30	50				
IGKV1-6	28943	broad.mit.edu	37	2	89265876	89265876	+	RNA	SNP	C	C	T	rs375272093		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr2:89265876C>T	ENST00000464162.1	-	0	284									immunoglobulin kappa variable 1-6																		GATCCACTGCCGCTGAACCTT	0.473																																						ENST00000464162.1																			0															C		1,3753		0,1,1876	170.0	160.0	163.0			0.8	0.0	2		163	1,8187		0,1,4093	no	intergenic				0,2,5969	TT,TC,CC		0.0122,0.0266,0.0167			89265876	2,11940	1877	4094	5971			0							g.chr2:89265876C>T	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89265876C>T														0	284	-									RNA	SNP	ENST00000464162.1	37																																																																																						0.473	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		11	229	0	0	0	1	0	11	229				
PAX3	5077	broad.mit.edu	37	2	223085988	223085988	+	Missense_Mutation	SNP	G	G	A	rs372190620		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr2:223085988G>A	ENST00000350526.4	-	6	1047	c.911C>T	c.(910-912)aCg>aTg	p.T304M	PAX3_ENST00000392070.2_Missense_Mutation_p.T304M|PAX3_ENST00000344493.4_Missense_Mutation_p.T304M|PAX3_ENST00000336840.6_Missense_Mutation_p.T304M|PAX3_ENST00000392069.2_Missense_Mutation_p.T304M|PAX3_ENST00000409551.3_Missense_Mutation_p.T303M|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	304					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCTGGTACGTTGGCAAGGT	0.537			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(910-912)aCg>aTg		paired box 3		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	204.0	211.0	209.0		908,911,911,911,911,911	6.1	1.0	2		209	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	PAX3	NM_001127366.2,NM_181457.3,NM_181458.3,NM_181459.3,NM_181460.3,NM_181461.3	81,81,81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	303/484,304/480,304/485,304/506,304/408,304/404	223085988	1,13005	2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223085988G>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.911C>T	2.37:g.223085988G>A	ENSP00000343052:p.Thr304Met					PAX3_ENST00000392070.2_Missense_Mutation_p.T304M|PAX3_ENST00000392069.2_Missense_Mutation_p.T304M|PAX3_ENST00000344493.4_Missense_Mutation_p.T304M|PAX3_ENST00000409551.3_Missense_Mutation_p.T303M|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Missense_Mutation_p.T304M	p.T304M	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	1047	-		Renal(207;0.0183)	304					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.911C>T	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946475	0.73672	0.0	1.16E-4	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	D;D;D;D;D;D	0.94497	-3.42;-3.44;-3.42;-3.41;-3.44;-3.42	6.06	6.06	0.98353	.	0.156083	0.64402	D	0.000016	D	0.94456	0.8216	L	0.34521	1.04	0.80722	D	1	P;P;D;D;D	0.59357	0.934;0.952;0.985;0.978;0.966	B;B;B;P;B	0.54270	0.301;0.186;0.343;0.747;0.257	D	0.93548	0.6884	10	0.42905	T	0.14	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	304;303;304;304;304	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	M	304;304;304;304;304;303;21;21	ENSP00000375921:T304M;ENSP00000342092:T304M;ENSP00000343052:T304M;ENSP00000375922:T304M;ENSP00000338767:T304M;ENSP00000386750:T303M	ENSP00000338767:T304M	T	-	2	0	PAX3	222794232	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.573000	0.82421	2.882000	0.98803	0.655000	0.94253	ACG		0.537	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			4	185	0	0	0	1	0	4	185				
ZEB1	6935	broad.mit.edu	37	10	31815612	31815612	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr10:31815612A>G	ENST00000320985.10	+	9	2905	c.2795A>G	c.(2794-2796)cAt>cGt	p.H932R	ZEB1_ENST00000446923.2_Missense_Mutation_p.H916R|ZEB1_ENST00000560721.2_Missense_Mutation_p.H912R|ZEB1_ENST00000542815.3_Missense_Mutation_p.H865R|ZEB1_ENST00000361642.5_Missense_Mutation_p.H933R			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	932					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAAGACCTCATGAGTGTGGA	0.333																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2746-2748)cAt>cGt		zinc finger E-box binding homeobox 1							56.0	57.0	57.0					10																	31815612		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815612A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2795A>G	10.37:g.31815612A>G	ENSP00000319248:p.His932Arg					ZEB1_ENST00000542815.3_Missense_Mutation_p.H865R|ZEB1_ENST00000560721.2_Missense_Mutation_p.H912R|ZEB1_ENST00000320985.10_Missense_Mutation_p.H932R|ZEB1_ENST00000361642.5_Missense_Mutation_p.H933R	p.H916R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			9	3138	+		Prostate(175;0.0156)	932					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2747A>G	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102100	0.76983	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.13	5.13	0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.502966	0.18585	N	0.136889	T	0.72692	0.3492	M	0.69358	2.11	0.80722	D	1	D;P;P;P;P	0.65815	0.995;0.684;0.915;0.801;0.801	D;B;P;B;B	0.64321	0.924;0.419;0.783;0.419;0.419	T	0.75714	-0.3221	10	0.87932	D	0	-2.0149	14.9143	0.70781	1.0:0.0:0.0:0.0	.	865;916;912;933;932	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	R	714;932;933;927;865;932;912;823;916	ENSP00000444282:H714R;ENSP00000354487:H933R;ENSP00000444891:H865R;ENSP00000319248:H932R;ENSP00000391612:H916R	ENSP00000319248:H932R	H	+	2	0	ZEB1	31855618	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.283000	0.95860	1.946000	0.56461	0.477000	0.44152	CAT		0.333	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		9	27	0	0	0	1	0	9	27				
LAMA3	3909	broad.mit.edu	37	18	21330980	21330980	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr18:21330980T>C	ENST00000313654.9	+	5	1024	c.783T>C	c.(781-783)cgT>cgC	p.R261R	LAMA3_ENST00000399516.3_Silent_p.R261R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	261	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCCGCTTGCGTTTTCTTAGAA	0.468																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(781-783)cgT>cgC		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						117.0	115.0	116.0					18																	21330980		1887	4118	6005	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21330980T>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.783T>C	18.37:g.21330980T>C						LAMA3_ENST00000399516.3_Silent_p.R261R	p.R261R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			5	1024	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		261			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.783T>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	T	8.895	0.955053	0.18507	.	.	ENSG00000053747	ENST00000416669	.	.	.	5.64	1.39	0.22231	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9699	0.24642	0.0:0.0889:0.2753:0.6358	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA3	19584978	0.828000	0.29307	0.998000	0.56505	0.716000	0.41182	-0.108000	0.10857	-0.006000	0.14370	-0.313000	0.08912	.		0.468	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	98	0	0	0	1	0	4	98				
GPR124	25960	broad.mit.edu	37	8	37654983	37654983	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr8:37654983T>G	ENST00000412232.2	+	1	210	c.197T>G	c.(196-198)gTg>gGg	p.V66G	GPR124_ENST00000315215.7_Missense_Mutation_p.V66G	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	66	LRRNT.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CGGCGGAGGGTGGTGTGCAGC	0.736																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(196-198)gTg>gGg		G protein-coupled receptor 124							4.0	5.0	5.0					8																	37654983		1458	3102	4560	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37654983T>G	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.197T>G	8.37:g.37654983T>G	ENSP00000406367:p.Val66Gly					GPR124_ENST00000412232.2_Missense_Mutation_p.V66G	p.V66G			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		1	560	+			66			LRRNT.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.197T>G	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	T	18.91	3.722842	0.68959	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.65364	-0.15;-0.06	4.61	4.61	0.57282	.	0.000000	0.37715	U	0.001977	T	0.69287	0.3094	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72921	-0.4145	10	0.87932	D	0	-17.1848	12.9829	0.58575	0.0:0.0:0.0:1.0	.	66;66	Q96PE1-2;Q96PE1	.;GP124_HUMAN	G	59;66;66	ENSP00000323508:V66G;ENSP00000406367:V66G	ENSP00000323508:V66G	V	+	2	0	GPR124	37774141	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.539000	0.60657	1.695000	0.51148	0.459000	0.35465	GTG		0.736	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			3	0	0	0	0	1	0	3	0				
PON3	5446	broad.mit.edu	37	7	94996690	94996690	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:94996690G>T	ENST00000265627.5	-	5	488	c.478C>A	c.(478-480)Cat>Aat	p.H160N	PON3_ENST00000451904.1_Missense_Mutation_p.H160N|PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.H160N	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	160					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	AGAAGTTCATGTTTTATAGTT	0.368																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(478-480)Cat>Aat		paraoxonase 3							121.0	122.0	122.0					7																	94996690		2203	4300	6503	SO:0001583	missense	5446							g.chr7:94996690G>T	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.478C>A	7.37:g.94996690G>T	ENSP00000265627:p.His160Asn					PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.H160N	p.H160N	NM_000940.2	NP_000931.1			STAD - Stomach adenocarcinoma(171;0.0151)		5	488	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	c.478C>A	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498158	0.44455	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.16457	2.34;2.34	4.78	4.78	0.61160	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.83118	2.625	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.77004	0.989;0.966	T	0.50415	-0.8831	10	0.59425	D	0.04	-21.7234	17.9931	0.89175	0.0:0.0:1.0:0.0	.	208;160	B4E2I0;Q15166	.;PON3_HUMAN	N	160	ENSP00000265627:H160N;ENSP00000413276:H160N	ENSP00000265627:H160N	H	-	1	0	PON3	94834626	1.000000	0.71417	0.808000	0.32385	0.011000	0.07611	8.645000	0.91049	2.669000	0.90835	0.585000	0.79938	CAT		0.368	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		5	94	1	0	0.00116845	1	0.00130327	5	94				
DUS3L	56931	broad.mit.edu	37	19	5790154	5790154	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr19:5790154T>C	ENST00000309061.7	-	2	387	c.291A>G	c.(289-291)ctA>ctG	p.L97L	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	97							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCTGAGTCTGTAGCTGCTCCC	0.627																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(289-291)ctA>ctG		dihydrouridine synthase 3-like (S. cerevisiae)							72.0	73.0	73.0					19																	5790154		2203	4300	6503	SO:0001819	synonymous_variant	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790154T>C		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.291A>G	19.37:g.5790154T>C						DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	p.L97L	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			2	387	-			97					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Silent	SNP	ENST00000309061.7	37	c.291A>G	CCDS32880.1																																																																																				0.627	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		15	37	0	0	0	1	0	15	37				
AICDA	57379	broad.mit.edu	37	12	8758040	8758040	+	Silent	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr12:8758040C>T	ENST00000229335.6	-	3	301	c.198G>A	c.(196-198)tcG>tcA	p.S66S	AICDA_ENST00000537228.1_Silent_p.S66S	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	66					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGTCCCAGTCCGAGATGTAGC	0.587																																					GBM(62;896 1067 5527 26594 30137)	ENST00000229335.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(196-198)tcG>tcA		activation-induced cytidine deaminase							54.0	57.0	56.0					12																	8758040		2074	4233	6307	SO:0001819	synonymous_variant	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8758040C>T	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.198G>A	12.37:g.8758040C>T						AICDA_ENST00000537228.1_Silent_p.S66S	p.S66S	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN			3	301	-	Lung SC(5;0.184)		66					Q6QJ81|Q8NFC1	Silent	SNP	ENST00000229335.6	37	c.198G>A	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	C	9.358	1.067144	0.20067	.	.	ENSG00000111732	ENST00000543081;ENST00000545512	.	.	.	5.43	-7.06	0.01568	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40590	-0.9555	4	.	.	.	-33.7651	0.3338	0.00323	0.2795:0.1818:0.2809:0.2579	.	.	.	.	Q	65	.	.	R	-	2	0	AICDA	8649307	0.022000	0.18835	0.700000	0.30305	0.887000	0.51463	-1.353000	0.02617	-1.311000	0.02309	-1.508000	0.00951	CGG		0.587	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		3	41	0	0	0	1	0	3	41				
DSCAML1	57453	broad.mit.edu	37	11	117301609	117301609	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:117301609T>C	ENST00000321322.6	-	32	5696	c.5695A>G	c.(5695-5697)Agt>Ggt	p.S1899G	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1629G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1839					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCAGAGGAACTGTCAGAGATG	0.587																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(5695-5697)Agt>Ggt		Down syndrome cell adhesion molecule like 1							300.0	252.0	268.0					11																	117301609		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117301609T>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5695A>G	11.37:g.117301609T>C	ENSP00000315465:p.Ser1899Gly					DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1629G	p.S1899G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	32	5696	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1839					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5695A>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171437	0.78452	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.63744	-0.02;-0.06	5.04	5.04	0.67666	.	.	.	.	.	T	0.54775	0.1879	N	0.19112	0.55	0.58432	D	0.999993	P	0.52316	0.952	P	0.47573	0.55	T	0.62263	-0.6891	9	0.72032	D	0.01	.	14.9328	0.70929	0.0:0.0:0.0:1.0	.	1839	Q8TD84	DSCL1_HUMAN	G	1629;1899;1606	ENSP00000434335:S1629G;ENSP00000315465:S1899G	ENSP00000315465:S1899G	S	-	1	0	DSCAML1	116806819	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.868000	0.87116	2.123000	0.65237	0.482000	0.46254	AGT		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	155	0	0	0	1	0	5	155				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	32	0	0	0	1	0	4	32				
MUC15	143662	broad.mit.edu	37	11	26586956	26586956	+	Silent	SNP	A	A	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:26586956A>G	ENST00000455601.2	-	2	568	c.450T>C	c.(448-450)acT>acC	p.T150T	ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Silent_p.T177T|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Silent_p.T177T|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Silent_p.T177T|MUC15_ENST00000527569.1_Silent_p.T177T	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	150					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CCAAAGACCAAGTGAAGTTTT	0.443																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(529-531)acT>acC		mucin 15, cell surface associated							158.0	148.0	152.0					11																	26586956		2203	4300	6503	SO:0001819	synonymous_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586956A>G	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.450T>C	11.37:g.26586956A>G						ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Silent_p.T150T|MUC15_ENST00000527569.1_Silent_p.T177T|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Silent_p.T177T|MUC15_ENST00000529533.1_Silent_p.T177T	p.T177T			Q8N387	MUC15_HUMAN			2	664	-			150					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	c.531T>C	CCDS7859.1																																																																																				0.443	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		24	87	0	0	0	1	0	24	87				
PALB2	79728	broad.mit.edu	37	16	23632759	23632759	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr16:23632759T>C	ENST00000261584.4	-	10	3189	c.3037A>G	c.(3037-3039)Ata>Gta	p.I1013V	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1013	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AAAGTTAGTATAGTCTCCTCA	0.408			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(3037-3039)Ata>Gta	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							110.0	105.0	107.0					16																	23632759		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23632759T>C		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3037A>G	16.37:g.23632759T>C	ENSP00000261584:p.Ile1013Val					CTD-2196E14.3_ENST00000561764.1_RNA	p.I1013V	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	10	3189	-			1013			Interaction with RAD51 and BRCA2.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.3037A>G	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	T	2.335	-0.352394	0.05173	.	.	ENSG00000083093	ENST00000261584	T	0.25579	1.79	5.31	-6.59	0.01830	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.630820	0.16193	N	0.225295	T	0.13157	0.0319	N	0.25144	0.715	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.26744	-1.0094	10	0.12103	T	0.63	-1.7695	14.9729	0.71249	0.0:0.6298:0.0:0.3702	.	1013	Q86YC2	PALB2_HUMAN	V	1013	ENSP00000261584:I1013V	ENSP00000261584:I1013V	I	-	1	0	PALB2	23540260	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-2.159000	0.01280	-1.670000	0.01468	-1.466000	0.01016	ATA		0.408	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		5	56	0	0	0	1	0	5	56				
ATP10B	23120	broad.mit.edu	37	5	160061406	160061406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr5:160061406G>A	ENST00000327245.5	-	12	2182	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	446					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCAACGTCGGAACACCATC	0.502																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1336-1338)Cga>Tga		ATPase, class V, type 10B							130.0	130.0	130.0					5																	160061406		1968	4154	6122	SO:0001587	stop_gained	23120				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.chr5:160061406G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1336C>T	5.37:g.160061406G>A	ENSP00000313600:p.Arg446*					CTC-348L5.1_ENST00000523598.1_RNA	p.R446*	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	2182	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	446					Q9H725	Nonsense_Mutation	SNP	ENST00000327245.5	37	c.1336C>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	46	12.956525	0.99709	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	.	.	.	5.53	2.7	0.31948	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1362	0.65289	0.0:0.0:0.611:0.389	.	.	.	.	X	446;54	.	.	R	-	1	2	ATP10B	159993984	1.000000	0.71417	0.180000	0.23079	0.897000	0.52465	2.547000	0.45786	0.261000	0.21753	0.655000	0.94253	CGA		0.502	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		5	112	0	0	0	1	0	5	112				
FUNDC2P2	388965	broad.mit.edu	37	2	84518075	84518075	+	RNA	SNP	G	G	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr2:84518075G>A	ENST00000331369.5	+	0	269									FUN14 domain containing 2 pseudogene 2																		AAAGTATAGCGTGGCAACCCA	0.507																																						ENST00000331369.5																			0																																																			0							g.chr2:84518075G>A			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84518075G>A														0	269	+									RNA	SNP	ENST00000331369.5	37																																																																																						0.507	FUNDC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333681.1	NR_003663		23	58	0	0	0	1	0	23	58				
MEGF6	1953	broad.mit.edu	37	1	3422030	3422030	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:3422030C>T	ENST00000356575.4	-	16	2235	c.2009G>A	c.(2008-2010)aGc>aAc	p.S670N	MEGF6_ENST00000294599.4_Missense_Mutation_p.S565N	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	670						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGGAGCAGCTGCCATCCCT	0.706																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2008-2010)aGc>aAc		multiple EGF-like-domains 6							13.0	17.0	16.0					1																	3422030		2111	4229	6340	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3422030C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2009G>A	1.37:g.3422030C>T	ENSP00000348982:p.Ser670Asn					MEGF6_ENST00000294599.4_Missense_Mutation_p.S565N	p.S670N	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	16	2235	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	670					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.2009G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462937	0.43736	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.35789	1.29;1.29	4.73	3.8	0.43715	EGF-like, laminin (1);	0.319497	0.33110	N	0.005275	T	0.25158	0.0611	L	0.32530	0.975	0.24988	N	0.991559	P;P	0.44521	0.588;0.837	B;P	0.44673	0.269;0.457	T	0.09015	-1.0694	10	0.26408	T	0.33	-20.859	3.2844	0.06926	0.1567:0.521:0.2257:0.0966	.	670;565	O75095;O75095-2	MEGF6_HUMAN;.	N	565;670	ENSP00000294599:S565N;ENSP00000348982:S670N	ENSP00000294599:S565N	S	-	2	0	MEGF6	3411890	0.996000	0.38824	0.971000	0.41717	0.899000	0.52679	0.442000	0.21628	2.160000	0.67779	0.462000	0.41574	AGC		0.706	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		3	17	0	0	0	1	0	3	17				
CTSE	1510	broad.mit.edu	37	1	206320204	206320204	+	Missense_Mutation	SNP	C	C	T	rs199778962		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:206320204C>T	ENST00000358184.2	+	4	465	c.347C>T	c.(346-348)aCg>aTg	p.T116M	CTSE_ENST00000432969.2_Missense_Mutation_p.T41M|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000361052.3_Missense_Mutation_p.T116M|CTSE_ENST00000360218.2_Missense_Mutation_p.T116M	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	116					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TTTCCAGAGACGCACAGCAGG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19316	0.001		0.0	False		,,,				2504	0.0					ENST00000361052.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(346-348)aCg>aTg		cathepsin E							114.0	101.0	105.0					1																	206320204		2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206320204C>T	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.347C>T	1.37:g.206320204C>T	ENSP00000350911:p.Thr116Met					CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Missense_Mutation_p.T116M|CTSE_ENST00000432969.2_Missense_Mutation_p.T41M|CTSE_ENST00000358184.2_Missense_Mutation_p.T116M	p.T116M			P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		4	465	+			116					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.347C>T	CCDS1462.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	2.995	-0.207288	0.06180	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	4.6	-1.54	0.08584	.	0.842078	0.10339	N	0.686491	T	0.21841	0.0526	N	0.12443	0.215	0.09310	N	1	P;B;B	0.35208	0.49;0.311;0.016	B;B;B	0.21360	0.034;0.02;0.005	T	0.11155	-1.0599	10	0.34782	T	0.22	.	1.4698	0.02414	0.4668:0.2352:0.1105:0.1874	.	41;116;116	B4DNU8;P14091-2;P14091-1	.;.;.	M	116;116;116;41	ENSP00000350911:T116M;ENSP00000354337:T116M;ENSP00000353350:T116M;ENSP00000394607:T41M	ENSP00000350911:T116M	T	+	2	0	CTSE	204486827	0.000000	0.05858	0.067000	0.19924	0.014000	0.08584	-0.156000	0.10100	0.045000	0.15804	-1.398000	0.01145	ACG		0.577	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		4	50	0	0	0	1	0	4	50				
ACACA	31	broad.mit.edu	37	17	35536315	35536315	+	Silent	SNP	A	A	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr17:35536315A>T	ENST00000394406.2	-	41	5044	c.4854T>A	c.(4852-4854)acT>acA	p.T1618T	ACACA_ENST00000353139.5_Silent_p.T1655T|ACACA_ENST00000335166.5_Silent_p.T1540T|ACACA_ENST00000360679.3_Silent_p.T1560T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1618					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAATGCTTGAGTGGACATAG	0.413																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(4963-4965)acT>acA		acetyl-CoA carboxylase alpha	Biotin(DB00121)						114.0	105.0	108.0					17																	35536315		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35536315A>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4854T>A	17.37:g.35536315A>T						ACACA_ENST00000394406.2_Silent_p.T1618T|ACACA_ENST00000360679.3_Silent_p.T1560T|ACACA_ENST00000335166.5_Silent_p.T1540T	p.T1655T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			41	5446	-		Breast(25;0.00157)|Ovarian(249;0.15)	1618					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.4965T>A	CCDS11317.1																																																																																				0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		9	34	0	0	0	1	0	9	34				
CS	1431	broad.mit.edu	37	12	56679800	56679800	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr12:56679800T>C	ENST00000351328.3	-	3	291	c.101A>G	c.(100-102)aAa>aGa	p.K34R	CS_ENST00000542324.2_Missense_Mutation_p.K21R|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.K230R|CS_ENST00000548567.1_5'UTR	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	34					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CAATATGTCTTTCAAATTCTA	0.403																																						ENST00000351328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(100-102)aAa>aGa		citrate synthase							110.0	106.0	108.0					12																	56679800		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56679800T>C		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.101A>G	12.37:g.56679800T>C	ENSP00000342056:p.Lys34Arg					CS_ENST00000548567.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.K230R|CS_ENST00000542324.2_Missense_Mutation_p.K21R	p.K34R	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	3	291	-		Myeloproliferative disorder(1001;0.000374)	34					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.101A>G	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380345	0.82682	.	.	ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000144785;ENSG00000144785	ENST00000351328;ENST00000542324;ENST00000546930;ENST00000548041;ENST00000546554;ENST00000550655;ENST00000551968;ENST00000549318;ENST00000547423	.	.	.	3.79	3.79	0.43588	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.46741	1.465	0.58432	D	0.999998	B;B	0.28324	0.207;0.207	B;B	0.29440	0.102;0.066	T	0.54523	-0.8281	9	0.49607	T	0.09	-12.6527	12.4999	0.55950	0.0:0.0:0.0:1.0	.	21;34	B4DJV2;O75390	.;CISY_HUMAN	R	34;21;34;34;34;34;34;230;88	.	ENSP00000342056:K34R	K	-	2	0	RP11-977G19.10;CS	54966067	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.340000	0.79292	1.956000	0.56807	0.533000	0.62120	AAA		0.403	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		12	81	0	0	0	1	0	12	81				
TP53INP1	94241	broad.mit.edu	37	8	95952206	95952206	+	Missense_Mutation	SNP	T	T	C	rs201012799		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr8:95952206T>C	ENST00000342697.4	-	3	762	c.355A>G	c.(355-357)Atg>Gtg	p.M119V	TP53INP1_ENST00000378776.4_Missense_Mutation_p.M119V|TP53INP1_ENST00000448464.2_Missense_Mutation_p.M119V|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	119					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AGGTTTTCCATAGGACTTGTT	0.488													T|||	1	0.000199681	0.0	0.0	5008	,	,		21861	0.0		0.0	False		,,,				2504	0.001					ENST00000342697.4																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(355-357)Atg>Gtg		tumor protein p53 inducible nuclear protein 1		T	VAL/MET,VAL/MET	0,4406		0,0,2203	168.0	144.0	152.0		355,355	0.0	1.0	8		152	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TP53INP1	NM_001135733.1,NM_033285.3	21,21	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign,benign	119/165,119/241	95952206	2,13004	2203	4300	6503	SO:0001583	missense	0				apoptosis	PML body		g.chr8:95952206T>C	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.355A>G	8.37:g.95952206T>C	ENSP00000344215:p.Met119Val					NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.M119V|TP53INP1_ENST00000378776.4_Missense_Mutation_p.M119V	p.M119V	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	762	-	Breast(36;8.75e-07)		119					B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.355A>G	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108309	0.37242	0.0	2.33E-4	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.49720	0.77;0.77;0.77	6.17	0.0339	0.14181	.	0.215020	0.56097	D	0.000026	T	0.41949	0.1181	M	0.66939	2.045	0.30046	N	0.812225	B;B	0.23806	0.038;0.091	B;B	0.23419	0.033;0.046	T	0.45920	-0.9228	10	0.66056	D	0.02	-8.4663	8.488	0.33082	0.1737:0.0:0.2772:0.5492	.	119;119	Q96A56-2;Q96A56	.;T53I1_HUMAN	V	119	ENSP00000390063:M119V;ENSP00000344215:M119V;ENSP00000368052:M119V	ENSP00000344215:M119V	M	-	1	0	TP53INP1	96021382	0.863000	0.29885	0.993000	0.49108	0.997000	0.91878	1.123000	0.31308	0.139000	0.18822	0.533000	0.62120	ATG		0.488	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			10	45	0	0	0	1	0	10	45				
F7	2155	broad.mit.edu	37	13	113772752	113772752	+	Silent	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr13:113772752C>T	ENST00000375581.3	+	9	866	c.831C>T	c.(829-831)gaC>gaT	p.D277D	F7_ENST00000541084.1_Silent_p.D208D|F7_ENST00000346342.3_Silent_p.D255D	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	277	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> N (in FA7D). {ECO:0000269|PubMed:18976247}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCGAGCACGACGGGGATGAGC	0.682																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CI010146	F7	I		c.(829-831)gaC>gaT		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						65.0	66.0	66.0					13																	113772752		2202	4299	6501	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772752C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.831C>T	13.37:g.113772752C>T						F7_ENST00000541084.1_Silent_p.D208D|F7_ENST00000346342.3_Silent_p.D255D	p.D277D	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	866	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	277		D -> N (in FA7D).	Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.831C>T	CCDS9528.1																																																																																				0.682	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		13	38	0	0	0	1	0	13	38				
MED15	51586	broad.mit.edu	37	22	20937036	20937036	+	Splice_Site	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr22:20937036T>A	ENST00000263205.7	+	10	1478		c.e10+2		MED15_ENST00000292733.7_Splice_Site|MED15_ENST00000542773.1_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000382974.2_Splice_Site|MED15_ENST00000425759.2_Splice_Site|MED15_ENST00000406969.1_Splice_Site|MED15_ENST00000541476.1_Splice_Site	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15						gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAACGTCAGGTAGGCCTGGCC	0.716																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.e10+2		mediator complex subunit 15							33.0	41.0	38.0					22																	20937036		2197	4294	6491	SO:0001630	splice_region_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20937036T>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1409+2T>A	22.37:g.20937036T>A						MED15_ENST00000382974.2_Splice_Site|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Splice_Site|MED15_ENST00000541476.1_Splice_Site|MED15_ENST00000425759.2_Splice_Site|MED15_ENST00000406969.1_Splice_Site|MED15_ENST00000478831.1_Intron		NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		10	1478	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)						D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Splice_Site	SNP	ENST00000263205.7	37		CCDS33602.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077809	0.76528	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5229	0.61578	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED15	19267036	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.672000	0.68102	2.080000	0.62538	0.459000	0.35465	.		0.716	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889	Intron	4	38	0	0	0	1	0	4	38				
SLC6A9	6536	broad.mit.edu	37	1	44463552	44463552	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:44463552C>T	ENST00000360584.2	-	13	2092	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	SLC6A9_ENST00000372310.3_Missense_Mutation_p.R561H|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R450H|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R580H	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	634					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCCGTCTGTGCGGCAGAGCCG	0.647																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(1681-1683)cGc>cAc		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						78.0	80.0	79.0					1																	44463552		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44463552C>T	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1901G>A	1.37:g.44463552C>T	ENSP00000353791:p.Arg634His					SLC6A9_ENST00000475075.2_Missense_Mutation_p.R450H|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000360584.2_Missense_Mutation_p.R634H|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R580H	p.R561H	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			13	1847	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	634					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.1682G>A	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281316	0.40394	.	.	ENSG00000196517	ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.45	5.45	0.79879	.	0.747709	0.12967	N	0.424540	T	0.72574	0.3477	L	0.52011	1.625	0.80722	D	1	B;B;B;B	0.24368	0.021;0.06;0.102;0.039	B;B;B;B	0.21151	0.012;0.021;0.033;0.017	T	0.65038	-0.6265	10	0.25751	T	0.34	.	13.6352	0.62219	0.0:0.9229:0.0:0.0771	.	565;561;580;634	B7Z3W8;P48067-2;P48067-3;P48067	.;.;.;SC6A9_HUMAN	H	561;450;634;580	ENSP00000361384:R561H;ENSP00000434460:R450H;ENSP00000353791:R634H;ENSP00000350362:R580H	ENSP00000350362:R580H	R	-	2	0	SLC6A9	44236139	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.949000	0.40313	2.553000	0.86117	0.609000	0.83330	CGC		0.647	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		11	23	0	0	0	1	0	11	23				
PLPPR4	9890	broad.mit.edu	37	1	99772185	99772185	+	Silent	SNP	G	G	A	rs201385642		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:99772185G>A	ENST00000370185.3	+	7	2408	c.1911G>A	c.(1909-1911)ccG>ccA	p.P637P	LPPR4_ENST00000457765.1_Silent_p.P579P|LPPR4_ENST00000370184.1_Silent_p.P479P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		637					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TACAGATCCCGTCCACTGAAG	0.547																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1909-1911)ccG>ccA				G	,	0,4406		0,0,2203	81.0	78.0	79.0		1737,1911	-7.4	0.6	1		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LPPR4	NM_001166252.1,NM_014839.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	579/706,637/764	99772185	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0						phosphatidate phosphatase activity	g.chr1:99772185G>A																												ENST00000370185.3:c.1911G>A	1.37:g.99772185G>A						LPPR4_ENST00000457765.1_Silent_p.P579P|LPPR4_ENST00000370184.1_Silent_p.P479P	p.P637P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2408	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	637					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.1911G>A	CCDS757.1																																																																																				0.547	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			7	20	0	0	0	1	0	7	20				
AKT1	207	broad.mit.edu	37	14	105239420	105239420	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr14:105239420C>A	ENST00000554581.1	-	10	2447	c.967G>T	c.(967-969)Gac>Tac	p.D323Y	AKT1_ENST00000554192.1_Intron|AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y|AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y|RP11-982M15.2_ENST00000557223.1_RNA|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGTCATTGTCCTCCAGCACC	0.632		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(967-969)Gac>Tac		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						94.0	67.0	76.0					14																	105239420		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105239420C>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.967G>T	14.37:g.105239420C>A	ENSP00000451828:p.Asp323Tyr					AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y|AKT1_ENST00000554192.1_Intron|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y	p.D323Y			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	10	2447	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	323			Protein kinase.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.967G>T	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.198690	0.79015	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000555458;ENST00000544168;ENST00000554848	T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	3.28	3.28	0.37604	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	L	0.33753	1.03	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.40664	-0.9551	10	0.87932	D	0	.	15.0673	0.72005	0.0:1.0:0.0:0.0	.	323	P31749	AKT1_HUMAN	Y	323;323;323;323;323;18;261;323	ENSP00000451828:D323Y;ENSP00000384293:D323Y;ENSP00000270202:D323Y;ENSP00000385326:D323Y;ENSP00000450688:D323Y;ENSP00000451470:D18Y;ENSP00000443897:D261Y;ENSP00000451166:D323Y	ENSP00000270202:D323Y	D	-	1	0	AKT1	104310465	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.714000	0.68422	1.820000	0.53075	0.401000	0.26515	GAC		0.632	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		5	48	1	0	0.014758	1	0.0158512	5	48				
PAMR1	25891	broad.mit.edu	37	11	35515649	35515649	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:35515649T>A	ENST00000378880.2	-	2	690	c.245A>T	c.(244-246)cAc>cTc	p.H82L	PAMR1_ENST00000532848.1_Missense_Mutation_p.H42L|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.H82L|PAMR1_ENST00000378878.3_Missense_Mutation_p.H82L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	82	Cys-rich.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CTCACCTGGGTGGATCAGGCA	0.527																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(244-246)cAc>cTc		peptidase domain containing associated with muscle regeneration 1							233.0	159.0	184.0					11																	35515649		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35515649T>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.245A>T	11.37:g.35515649T>A	ENSP00000368158:p.His82Leu					PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Missense_Mutation_p.H42L|PAMR1_ENST00000278360.3_Missense_Mutation_p.H82L|PAMR1_ENST00000378878.3_Missense_Mutation_p.H82L	p.H82L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			2	690	-			82			Cys-rich.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.245A>T	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.364465	0.82463	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	D;D;D;D;D;D	0.90676	-2.23;-2.26;-2.47;-2.22;-2.23;-2.71	4.85	4.85	0.62838	.	0.061202	0.64402	D	0.000010	D	0.91456	0.7303	N	0.24115	0.695	0.37401	D	0.91285	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.986;0.998	D	0.94006	0.7280	10	0.87932	D	0	.	14.4246	0.67207	0.0:0.0:0.0:1.0	.	82;82;82	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	L	82;82;82;42;42;82	ENSP00000278360:H82L;ENSP00000368158:H82L;ENSP00000368156:H82L;ENSP00000433868:H42L;ENSP00000432591:H42L;ENSP00000433024:H82L	ENSP00000278360:H82L	H	-	2	0	PAMR1	35472225	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.978000	0.88095	1.821000	0.53095	0.459000	0.35465	CAC		0.527	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		8	69	0	0	0	1	0	8	69				
MACF1	23499	broad.mit.edu	37	1	39853894	39853894	+	Missense_Mutation	SNP	G	G	T	rs199498174		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:39853894G>T	ENST00000372915.3	+	57	15482	c.15395G>T	c.(15394-15396)cGg>cTg	p.R5132L	MACF1_ENST00000317713.7_Missense_Mutation_p.R3065L|MACF1_ENST00000361689.2_Missense_Mutation_p.R3065L|MACF1_ENST00000567887.1_Missense_Mutation_p.R5164L|MACF1_ENST00000564288.1_Missense_Mutation_p.R5127L|MACF1_ENST00000545844.1_Missense_Mutation_p.R3065L|MACF1_ENST00000289893.4_Missense_Mutation_p.R3567L|MACF1_ENST00000539005.1_Missense_Mutation_p.R3044L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5132					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTCACTGCCGGGTCCGAGAG	0.517																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(15379-15381)cGg>cTg		microtubule-actin crosslinking factor 1							104.0	89.0	94.0					1																	39853894		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853894G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15395G>T	1.37:g.39853894G>T	ENSP00000362006:p.Arg5132Leu					MACF1_ENST00000289893.4_Missense_Mutation_p.R3567L|MACF1_ENST00000372915.3_Missense_Mutation_p.R5132L|MACF1_ENST00000317713.7_Missense_Mutation_p.R3065L|MACF1_ENST00000567887.1_Missense_Mutation_p.R5164L|MACF1_ENST00000545844.1_Missense_Mutation_p.R3065L|MACF1_ENST00000361689.2_Missense_Mutation_p.R3065L|MACF1_ENST00000539005.1_Missense_Mutation_p.R3044L	p.R5127L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	16157	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5132					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.15380G>T		.	.	.	.	.	.	.	.	.	.	G	16.67	3.187735	0.57909	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.9	5.9	0.94986	.	0.000000	0.52532	D	0.000079	T	0.48187	0.1486	L	0.47716	1.5	0.80722	D	1	D;D;P	0.71674	0.998;0.965;0.889	D;P;P	0.68943	0.961;0.653;0.653	T	0.26608	-1.0098	10	0.27082	T	0.32	.	10.6065	0.45398	0.1419:0.0:0.8581:0.0	.	5132;3065;3009	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	L	3065;5132;3065;3065;3044;3567	ENSP00000439537:R3065L;ENSP00000362006:R5132L;ENSP00000354573:R3065L;ENSP00000313438:R3065L;ENSP00000444364:R3044L;ENSP00000289893:R3567L	ENSP00000289893:R3567L	R	+	2	0	MACF1	39626481	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	4.304000	0.59104	2.793000	0.96121	0.563000	0.77884	CGG		0.517	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		8	29	1	0	5.4927e-09	1	6.2466e-09	8	29				
DNAH17	8632	broad.mit.edu	37	17	76510934	76510934	+	Silent	SNP	C	C	T	rs539639486		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr17:76510934C>T	ENST00000585328.1	-	26	4150	c.4026G>A	c.(4024-4026)acG>acA	p.T1342T	DNAH17_ENST00000389840.5_Silent_p.T1341T	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1341	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACGCAGGGACGTGATCACGT	0.572													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18254	0.0		0.0	False		,,,				2504	0.0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(4021-4023)acG>acA		dynein, axonemal, heavy chain 17							131.0	135.0	133.0					17																	76510934		2131	4243	6374	SO:0001819	synonymous_variant	8632							g.chr17:76510934C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4026G>A	17.37:g.76510934C>T						DNAH17_ENST00000585328.1_Silent_p.T1342T	p.T1341T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		26	4147	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.4023G>A																																																																																					0.572	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		18	57	0	0	0	1	0	18	57				
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:72209576C>G	ENST00000435769.2	-	0	1089				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CTCGGAGCATCGACTATGACA	0.413																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							233.0	179.0	195.0					7																	72209576		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72209576C>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72209576C>G										Q6NUM6	TYW1B_HUMAN			0	579	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		3	49	0	0	0	1	0	3	49				
TSG101	7251	broad.mit.edu	37	11	18541081	18541081	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:18541081C>T	ENST00000251968.3	-	2	527	c.112G>A	c.(112-114)Gtt>Att	p.V38I	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000536719.1_Missense_Mutation_p.V38I	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	38	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GAATCCAAAACAGGTTTGAGA	0.299																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(112-114)Gtt>Att		tumor susceptibility 101							136.0	134.0	134.0					11																	18541081		2199	4292	6491	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18541081C>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.112G>A	11.37:g.18541081C>T	ENSP00000251968:p.Val38Ile					TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Missense_Mutation_p.V38I	p.V38I			Q99816	TS101_HUMAN			2	246	-			38			UEV.		Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.112G>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243186	0.39697	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	T;T	0.42513	0.97;0.98	5.4	3.36	0.38483	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.072290	0.56097	D	0.000039	T	0.28200	0.0696	L	0.33485	1.01	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10567	-1.0624	10	0.38643	T	0.18	-19.7365	7.4843	0.27423	0.0:0.7159:0.1383:0.1457	.	38	Q99816	TS101_HUMAN	I	38	ENSP00000438471:V38I;ENSP00000251968:V38I	ENSP00000251968:V38I	V	-	1	0	TSG101	18497657	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.003000	0.29809	2.535000	0.85469	0.313000	0.20887	GTT		0.299	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		53	110	0	0	0	1	0	53	110				
OR10G8	219869	broad.mit.edu	37	11	123900402	123900402	+	Missense_Mutation	SNP	C	C	T	rs147950397	byFrequency	TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:123900402C>T	ENST00000431524.1	+	1	106	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACGCCCCCCTCTTTGGAGT	0.582																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(73-75)Ctc>Ttc		olfactory receptor, family 10, subfamily G, member 8							184.0	172.0	176.0					11																	123900402		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900402C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73C>T	11.37:g.123900402C>T	ENSP00000389072:p.Leu25Phe						p.L25F	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	106	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	25					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.73C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	7.428	0.638055	0.14386	.	.	ENSG00000234560	ENST00000431524	T	0.17213	2.29	2.95	2.95	0.34219	.	0.000000	0.43747	D	0.000532	T	0.14570	0.0352	L	0.42529	1.33	0.21473	N	0.999676	B	0.25609	0.13	B	0.33042	0.157	T	0.13124	-1.0521	10	0.37606	T	0.19	.	5.9973	0.19501	0.0:0.8523:0.0:0.1477	.	25	Q8NGN5	O10G8_HUMAN	F	25	ENSP00000389072:L25F	ENSP00000389072:L25F	L	+	1	0	OR10G8	123405612	0.867000	0.29959	0.215000	0.23724	0.022000	0.10575	1.277000	0.33167	1.634000	0.50500	0.585000	0.79938	CTC		0.582	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		38	108	0	0	0	1	0	38	108				
CROCCP2	84809	broad.mit.edu	37	1	16957305	16957306	+	lincRNA	INS	-	-	C	rs33996121		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:16957305_16957306insC	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCCCAGACACGCCCCCACCCCC	0.663																																						ENST00000412962.1																			0																																																			0							g.chr1:16957305_16957306insC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16957310_16957310dupC														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.663	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		2	4						2	4	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			0							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			4	4						4	4	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-	rs139764373		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)gaafs	p.E823fs	MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2467-2469)afs		membrane associated guanylate kinase, WW and PDZ domain containing 1																																				SO:0001589	frameshift_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65372850_65372851delTC	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.2467_2468delGA	3.37:g.65372860_65372861delTC	ENSP00000331157:p.Glu823fs					MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs	p.E823fs	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	15	2466_2467	-		Lung NSC(201;0.0016)	823			PDZ 4.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Frame_Shift_Del	DEL	ENST00000330909.8	37	c.2467_2468delGA	CCDS33781.1																																																																																				0.401	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742		7	41						7	41	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64498862	64498862	+	RNA	DEL	G	G	-			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:64498862delG	ENST00000426828.1	+	0	125					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CATGTGGAGAGGCAGAAGGAG	0.687																																						ENST00000426828.1																			0																																																			0							g.chr7:64498862delG			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498862delG								NR_033416.1						0	125	+									RNA	DEL	ENST00000426828.1	37																																																																																						0.687	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			2	4						2	4	---	---	---	---
NPDC1	56654	broad.mit.edu	37	9	139935547	139935547	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr9:139935547delG	ENST00000371601.4	-	3	565	c.352delC	c.(352-354)ctafs	p.L118fs	NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371600.3_Frame_Shift_Del_p.L196fs	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	118						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TCCTTGGGTAGGGGCGGAGTT	0.672																																						ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(586-588)tafs		neural proliferation, differentiation and control, 1							36.0	37.0	37.0					9																	139935547		2194	4296	6490	SO:0001589	frameshift_variant	56654					integral to membrane		g.chr9:139935547delG	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.352delC	9.37:g.139935547delG	ENSP00000360660:p.Leu118fs					NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371601.4_Frame_Shift_Del_p.L118fs	p.L196fs			Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1258	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	118					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Frame_Shift_Del	DEL	ENST00000371601.4	37	c.586delC	CCDS7024.1																																																																																				0.672	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		2	4						2	4	---	---	---	---
RP11-23E10.4	0	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358																																						ENST00000568520.1																			0																																																			0							g.chr16:33365420delA																													16.37:g.33365420delA														0	249	-									RNA	DEL	ENST00000568520.1	37																																																																																						0.358	RP11-23E10.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432134.1			4	9						4	9	---	---	---	---
CTD-2015H3.2	0	broad.mit.edu	37	18	1730321	1730322	+	lincRNA	INS	-	-	GGGATTAA	rs144546207|rs370400903	byFrequency	TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr18:1730321_1730322insGGGATTAA	ENST00000580524.1	+	0	408																											ggggggccatggggattAAGAC	0.386														71	0.0141773	0.0272	0.0144	5008	,	,		17141	0.0		0.0219	False		,,,				2504	0.0031					ENST00000580524.1																			0																																																			0							g.chr18:1730321_1730322insGGGATTAA																													18.37:g.1730322_1730329dupGGGATTAA														0	408	+									RNA	INS	ENST00000580524.1	37																																																																																						0.386	CTD-2015H3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441765.1			3	6						3	6	---	---	---	---
