#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
ANXA3	306	broad.mit.edu	37	4	79517010	79517010	+	Silent	SNP	G	G	A			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr4:79517010G>A	ENST00000264908.6	+	9	982	c.603G>A	c.(601-603)ctG>ctA	p.L201L	ANXA3_ENST00000503570.2_Silent_p.L162L|ANXA3_ENST00000512884.1_Silent_p.L162L	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	201					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTGAGATCCTGTGTTTAAGGA	0.328																																					GBM(2;126 157 27790 28920 42492)	ENST00000264908.6																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(601-603)ctG>ctA		annexin A3							114.0	114.0	114.0					4																	79517010		2203	4300	6503	SO:0001819	synonymous_variant	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79517010G>A	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.603G>A	4.37:g.79517010G>A						ANXA3_ENST00000503570.2_Silent_p.L162L|ANXA3_ENST00000512884.1_Silent_p.L162L	p.L201L	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN			9	982	+			201					B2R9W6|Q6LET2	Silent	SNP	ENST00000264908.6	37	c.603G>A	CCDS3584.1																																																																																				0.328	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		3	26	0	0	0	0.004672	0	3	26				
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T	rs191279075	byFrequency	TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186									DNM1 pseudogene 47																		GTCCAACCTGCACTCGCGTGG	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102296140C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296140C>T														0	4186	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	4	0	0	0	0.001168	0	5	4				
FAM98C	147965	broad.mit.edu	37	19	38895653	38895653	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr19:38895653G>A	ENST00000252530.5	+	4	474	c.455G>A	c.(454-456)gGc>gAc	p.G152D	FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.G152D|FAM98C_ENST00000585954.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	152										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGGGAGCCGGCATGGTCCAA	0.652																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(454-456)gGc>gAc		family with sequence similarity 98, member C							84.0	93.0	90.0					19																	38895653		2025	4185	6210	SO:0001583	missense	147965							g.chr19:38895653G>A		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.455G>A	19.37:g.38895653G>A	ENSP00000252530:p.Gly152Asp					FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.G152D	p.G152D	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	474	+	all_cancers(60;3.95e-06)		152					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.455G>A	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	0.798	-0.756545	0.03019	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.40225	1.04;1.04	4.42	-1.9	0.07665	.	0.697751	0.12508	N	0.462674	T	0.17916	0.0430	N	0.11789	0.175	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.001;0.004	T	0.19095	-1.0316	10	0.20046	T	0.44	-3.6726	3.8987	0.09150	0.3704:0.0:0.4709:0.1587	.	152;152	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	D	152	ENSP00000252530:G152D;ENSP00000340348:G152D	ENSP00000252530:G152D	G	+	2	0	FAM98C	43587493	0.036000	0.19791	0.007000	0.13788	0.118000	0.20060	0.042000	0.13949	-0.274000	0.09232	0.558000	0.71614	GGC		0.652	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		4	117	0	0	0	0.000248	0	4	117				
FMO3	2328	broad.mit.edu	37	1	171079976	171079976	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr1:171079976G>A	ENST00000367755.4	+	6	776	c.665G>A	c.(664-666)aGc>aAc	p.S222N	FMO3_ENST00000392085.2_Missense_Mutation_p.S222N|FMO3_ENST00000538429.1_Missense_Mutation_p.S159N|FMO3_ENST00000542847.1_Missense_Mutation_p.S202N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	222					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGGTGATGAGCCGGGTCTGG	0.463																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(664-666)aGc>aAc		flavin containing monooxygenase 3							195.0	173.0	181.0					1																	171079976		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171079976G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.665G>A	1.37:g.171079976G>A	ENSP00000356729:p.Ser222Asn					FMO3_ENST00000542847.1_Missense_Mutation_p.S202N|FMO3_ENST00000538429.1_Missense_Mutation_p.S159N|FMO3_ENST00000392085.2_Missense_Mutation_p.S222N	p.S222N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			6	776	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		222					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.665G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.272037	0.23221	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	4.99	4.07	0.47477	.	0.167172	0.64402	D	0.000004	T	0.30696	0.0773	N	0.25789	0.76	0.36520	D	0.870105	P;B;B	0.52061	0.95;0.4;0.31	P;B;B	0.55577	0.779;0.251;0.367	T	0.12734	-1.0536	10	0.16896	T	0.51	-17.5315	6.313	0.21174	0.1562:0.16:0.6837:0.0	.	159;202;222	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	N	222;222;202;159	ENSP00000356729:S222N;ENSP00000375935:S222N;ENSP00000444073:S202N;ENSP00000439500:S159N	ENSP00000356729:S222N	S	+	2	0	FMO3	169346600	0.596000	0.26866	0.953000	0.39169	0.641000	0.38312	1.673000	0.37534	1.293000	0.44690	0.650000	0.86243	AGC		0.463	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		5	120	0	0	0	0.001168	0	5	120				
ITGA8	8516	broad.mit.edu	37	10	15655757	15655757	+	Silent	SNP	C	C	A	rs200613964	byFrequency	TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr10:15655757C>A	ENST00000378076.3	-	15	1808	c.1455G>T	c.(1453-1455)ccG>ccT	p.P485P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	485					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CAGTCACAACCGGTCTTGCTC	0.463																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1453-1455)ccG>ccT		integrin, alpha 8							94.0	96.0	95.0					10																	15655757		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655757C>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1455G>T	10.37:g.15655757C>A							p.P485P	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			15	1808	-			485					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1455G>T	CCDS31155.1																																																																																				0.463	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		25	50	1	0	0.000375601	0.002780	0.000734871	25	50				
MYOM2	9172	broad.mit.edu	37	8	2046799	2046799	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr8:2046799C>T	ENST00000262113.4	+	19	2567	c.2426C>T	c.(2425-2427)aCc>aTc	p.T809I	MYOM2_ENST00000523438.1_Missense_Mutation_p.T234I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	809	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGGCCTGGACCATGCCGGAG	0.657																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2425-2427)aCc>aTc		myomesin 2							31.0	28.0	29.0					8																	2046799		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2046799C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2426C>T	8.37:g.2046799C>T	ENSP00000262113:p.Thr809Ile					MYOM2_ENST00000523438.1_Missense_Mutation_p.T234I	p.T809I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	19	2567	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	809					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2426C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141738	0.77775	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.53206	0.63;0.63	5.14	4.26	0.50523	.	0.055645	0.64402	D	0.000001	T	0.65502	0.2697	M	0.72576	2.205	0.48395	D	0.999645	D	0.71674	0.998	D	0.66979	0.948	T	0.69771	-0.5055	10	0.87932	D	0	.	13.6013	0.62020	0.0:0.9245:0.0:0.0755	.	809	P54296	MYOM2_HUMAN	I	809;234	ENSP00000262113:T809I;ENSP00000428396:T234I	ENSP00000262113:T809I	T	+	2	0	MYOM2	2034206	1.000000	0.71417	0.825000	0.32803	0.839000	0.47603	5.397000	0.66302	1.163000	0.42636	0.561000	0.74099	ACC		0.657	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		3	18	0	0	0	0.004672	0	3	18				
SGK1	6446	broad.mit.edu	37	6	134495197	134495197	+	Silent	SNP	C	C	T			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr6:134495197C>T	ENST00000237305.7	-	3	262	c.174G>A	c.(172-174)ttG>ttA	p.L58L	SGK1_ENST00000413996.3_Silent_p.L72L|SGK1_ENST00000528577.1_Silent_p.L86L|SGK1_ENST00000367857.5_Silent_p.L48L|SGK1_ENST00000367858.5_Silent_p.L153L|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.L58L	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	58	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.L86F(1)|p.L153F(1)|p.L48F(1)|p.L58F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGGAGATCTTCAAGATGGACT	0.498																																						ENST00000367858.5																			4	Substitution - Missense(4)	p.L86F(1)|p.L153F(1)|p.L48F(1)|p.L58F(1)	lung(4)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(457-459)ttG>ttA		serum/glucocorticoid regulated kinase 1							136.0	128.0	130.0					6																	134495197		2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134495197C>T	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.174G>A	6.37:g.134495197C>T						SGK1_ENST00000367857.5_Silent_p.L48L|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000237305.7_Silent_p.L58L|SGK1_ENST00000413996.3_Silent_p.L72L|SGK1_ENST00000475719.2_Silent_p.L58L|SGK1_ENST00000528577.1_Silent_p.L86L	p.L153L	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	5	1056	-	Colorectal(23;0.221)		58			Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.459G>A	CCDS5170.1																																																																																				0.498	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			30	75	0	0	0	0.008361	0	30	75				
ARMCX2	9823	broad.mit.edu	37	X	100911291	100911291	+	Silent	SNP	T	T	C			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chrX:100911291T>C	ENST00000328766.5	-	5	1737	c.1284A>G	c.(1282-1284)ggA>ggG	p.G428G	ARMCX2_ENST00000330154.2_Silent_p.G428G|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Silent_p.G428G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	428						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TTGGGAGGCCTCCCAATTTGC	0.388																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(1282-1284)ggA>ggG		armadillo repeat containing, X-linked 2							137.0	122.0	127.0					X																	100911291		2203	4300	6503	SO:0001819	synonymous_variant	9823					integral to membrane	binding	g.chrX:100911291T>C	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1284A>G	X.37:g.100911291T>C						ARMCX2_ENST00000356824.4_Silent_p.G428G|ARMCX2_ENST00000330154.2_Silent_p.G428G	p.G428G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1737	-			428					O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	c.1284A>G	CCDS14490.1																																																																																				0.388	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		3	134	0	0	0	0.004672	0	3	134				
ST6GALNAC4	27090	broad.mit.edu	37	9	130672244	130672244	+	Silent	SNP	G	G	A	rs188342632		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr9:130672244G>A	ENST00000335791.5	-	5	980	c.705C>T	c.(703-705)agC>agT	p.S235S	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Silent_p.S151S	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	235					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						AGTAGCTGTCGCTGACCATCC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		14842	0.001		0.0	False		,,,				2504	0.0					ENST00000335791.5																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(703-705)agC>agT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							45.0	40.0	42.0					9																	130672244		2203	4299	6502	SO:0001819	synonymous_variant	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130672244G>A	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.705C>T	9.37:g.130672244G>A						ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Silent_p.S151S	p.S235S	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN			5	980	-			235					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Silent	SNP	ENST00000335791.5	37	c.705C>T	CCDS6883.1																																																																																				0.647	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		20	21	0	0	0	0.001882	0	20	21				
GANAB	23193	broad.mit.edu	37	11	62400170	62400170	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr11:62400170T>C	ENST00000356638.3	-	9	879	c.863A>G	c.(862-864)gAg>gGg	p.E288G	GANAB_ENST00000534779.1_Missense_Mutation_p.E196G|GANAB_ENST00000540933.1_Missense_Mutation_p.E191G|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000346178.4_Missense_Mutation_p.E310G	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	288					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GTTGTACAGCTCATACTGGAA	0.552																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(928-930)gAg>gGg		glucosidase, alpha; neutral AB							217.0	205.0	209.0					11																	62400170		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400170T>C	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.863A>G	11.37:g.62400170T>C	ENSP00000349053:p.Glu288Gly					GANAB_ENST00000540933.1_Missense_Mutation_p.E191G|GANAB_ENST00000534779.1_Missense_Mutation_p.E196G|GANAB_ENST00000356638.3_Missense_Mutation_p.E288G	p.E310G	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			10	944	-			288					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.929A>G	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.708938	0.89018	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.19	5.19	0.71726	Glycoside hydrolase-type carbohydrate-binding (1);	0.055923	0.64402	D	0.000001	D	0.90034	0.6888	M	0.64080	1.96	0.58432	D	0.999999	D;D;P;B	0.53151	0.958;0.958;0.566;0.182	D;P;B;B	0.64877	0.93;0.876;0.285;0.124	D	0.90941	0.4797	10	0.87932	D	0	-29.607	13.0449	0.58920	0.0:0.0:0.0:1.0	.	174;196;288;310	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	G	310;288;196;191	ENSP00000340466:E310G;ENSP00000349053:E288G;ENSP00000435306:E196G;ENSP00000442962:E191G	ENSP00000340466:E310G	E	-	2	0	GANAB	62156746	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.828000	0.86729	2.184000	0.69523	0.374000	0.22700	GAG		0.552	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		3	208	0	0	0	0.004672	0	3	208				
SRR	63826	broad.mit.edu	37	17	2224836	2224836	+	Splice_Site	SNP	G	G	T	rs147900333		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr17:2224836G>T	ENST00000344595.5	+	6	838	c.520G>T	c.(520-522)Gtt>Ttt	p.V174F	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	174					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	TTCACTAAAGGTTCCTTTGGT	0.388																																						ENST00000344595.5																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.e6-1		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	G	PHE/VAL	0,4406		0,0,2203	88.0	87.0	87.0		520	3.9	1.0	17	dbSNP_134	87	1,8599		0,1,4299	no	missense-near-splice	SRR	NM_021947.1	50	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	174/341	2224836	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2224836G>T	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.520-1G>T	17.37:g.2224836G>T						SRR_ENST00000576848.1_Intron	p.V174_splice	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	6	838	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	174					D3DTI5|Q6IA55	Splice_Site	SNP	ENST00000344595.5	37	c.519_splice	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959640	0.53400	0.0	1.16E-4	ENSG00000167720	ENST00000344595	D	0.96802	-4.13	5.86	3.88	0.44766	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.256963	0.38164	N	0.001798	D	0.96312	0.8797	M	0.85777	2.775	0.80722	D	1	P	0.39181	0.663	B	0.43225	0.412	D	0.94701	0.7883	9	.	.	.	.	11.6752	0.51425	0.1422:0.0:0.8578:0.0	.	174	Q9GZT4	SRR_HUMAN	F	174	ENSP00000339435:V174F	.	V	+	1	0	SRR	2171586	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.614000	0.54160	0.817000	0.34445	0.563000	0.77884	GTT		0.388	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947	Missense_Mutation	24	37	1	0	4.26978e-12	0.003330	9.14952e-12	24	37				
VDAC3	7419	broad.mit.edu	37	8	42260882	42260882	+	Missense_Mutation	SNP	T	T	C	rs373787238		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr8:42260882T>C	ENST00000022615.4	+	8	673	c.605T>C	c.(604-606)aTt>aCt	p.I202T	VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Missense_Mutation_p.I203T|VDAC3_ENST00000392935.3_Missense_Mutation_p.I203T			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	202					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AATGAGAAGATTGAAACATCC	0.398																																						ENST00000392935.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(607-609)aTt>aCt		voltage-dependent anion channel 3	Dihydroxyaluminium(DB01375)	T	THR/ILE,THR/ILE	1,4405	2.1+/-5.4	0,1,2202	198.0	174.0	182.0		605,608	5.7	1.0	8		182	0,8600		0,0,4300	no	missense,missense	VDAC3	NM_005662.5,NM_001135694.1	89,89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	202/284,203/285	42260882	1,13005	2203	4300	6503	SO:0001583	missense	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42260882T>C	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.605T>C	8.37:g.42260882T>C	ENSP00000022615:p.Ile202Thr					VDAC3_ENST00000022615.4_Missense_Mutation_p.I202T|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Missense_Mutation_p.I203T	p.I203T	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	751	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	202					Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	c.608T>C	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561903	0.65538	2.27E-4	0.0	ENSG00000078668	ENST00000392935;ENST00000521158;ENST00000022615	T;T;T	0.42513	0.97;0.97;0.97	5.73	5.73	0.89815	.	0.181335	0.49916	D	0.000132	T	0.38904	0.1058	L	0.45581	1.43	0.49582	D	0.9998	B	0.27910	0.193	B	0.24701	0.055	T	0.30031	-0.9992	10	0.87932	D	0	-13.385	14.2659	0.66118	0.0:0.0:0.0:1.0	.	202	Q9Y277	VDAC3_HUMAN	T	203;203;202	ENSP00000442811:I203T;ENSP00000428845:I203T;ENSP00000022615:I202T	ENSP00000022615:I202T	I	+	2	0	VDAC3	42380039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.234000	0.72326	2.302000	0.77476	0.533000	0.62120	ATT		0.398	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			3	70	0	0	0	0.000248	0	3	70				
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T	rs200953619		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr18:15323276A>T	ENST00000455308.2	-	0	572				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308																																						ENST00000455308.2																			0																																																			0							g.chr18:15323276A>T																													18.37:g.15323276A>T								NR_027417.1						0	572	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.308	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			4	11	0	0	0	0.001168	0	4	11				
GPD2	2820	broad.mit.edu	37	2	157352615	157352615	+	Silent	SNP	T	T	G			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr2:157352615T>G	ENST00000310454.6	+	3	534	c.162T>G	c.(160-162)ccT>ccG	p.P54P	GPD2_ENST00000438166.2_Silent_p.P54P|GPD2_ENST00000540309.1_Silent_p.P54P|GPD2_ENST00000409125.4_Intron|AC011308.1_ENST00000601086.1_Splice_Site_p.G8G|GPD2_ENST00000409674.1_Silent_p.P54P	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	54					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACAGGGAGCCTCCTTCCAGAG	0.443																																						ENST00000601086.1																			0											c.e2-1									86.0	82.0	83.0					2																	157352615		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:157352615T>G		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.162T>G	2.37:g.157352615T>G						GPD2_ENST00000310454.6_Silent_p.P54P|GPD2_ENST00000409674.1_Silent_p.P54P|GPD2_ENST00000540309.1_Silent_p.P54P|GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Silent_p.P54P	p.G8_splice							2	23	-								A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Splice_Site	SNP	ENST00000310454.6	37	c.22_splice	CCDS2202.1																																																																																				0.443	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			4	42	0	0	0	0.000248	0	4	42				
TG	7038	broad.mit.edu	37	8	133895156	133895156	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr8:133895156G>T	ENST00000220616.4	+	8	1027	c.987G>T	c.(985-987)caG>caT	p.Q329H	TG_ENST00000377869.1_Missense_Mutation_p.Q329H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	329	Thyroglobulin type-1 4. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGCGGTGCAGTGCCAGACGG	0.597																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(985-987)caG>caT		thyroglobulin							49.0	48.0	48.0					8																	133895156		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133895156G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.987G>T	8.37:g.133895156G>T	ENSP00000220616:p.Gln329His					TG_ENST00000377869.1_Missense_Mutation_p.Q329H	p.Q329H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	8	1027	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	329			Thyroglobulin type-1 4.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.987G>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.621194	0.66787	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.81739	-1.53;-1.53	5.49	3.66	0.41972	Thyroglobulin type-1 (6);	0.000000	0.64402	D	0.000018	D	0.92681	0.7674	H	0.98199	4.17	0.37117	D	0.900623	D	0.89917	1.0	D	0.91635	0.999	D	0.94971	0.8117	10	0.87932	D	0	.	11.5639	0.50794	0.1322:0.0:0.8678:0.0	.	329	P01266	THYG_HUMAN	H	329	ENSP00000367100:Q329H;ENSP00000220616:Q329H	ENSP00000220616:Q329H	Q	+	3	2	TG	133964338	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	2.767000	0.47637	2.570000	0.86706	0.563000	0.77884	CAG		0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		3	39	1	0	0.00024832	0.000248	0.000507927	3	39				
CNGB1	1258	broad.mit.edu	37	16	57921841	57921841	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr16:57921841C>T	ENST00000251102.8	-	32	3440	c.3380G>A	c.(3379-3381)gGc>gAc	p.G1127D	CNGB1_ENST00000564448.1_Missense_Mutation_p.G1121D	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1127					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.G1127D(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AGCAAGTTTGCCGCCTTTTGC	0.612																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			1	Substitution - Missense(1)	p.G1127D(1)	cervix(1)	breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3361-3363)gGc>gAc		cyclic nucleotide gated channel beta 1							93.0	99.0	97.0					16																	57921841		1945	4139	6084	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57921841C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3380G>A	16.37:g.57921841C>T	ENSP00000251102:p.Gly1127Asp					CNGB1_ENST00000251102.8_Missense_Mutation_p.G1127D	p.G1121D			Q14028	CNGB1_HUMAN			32	3422	-			1127					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3362G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745368	0.49151	.	.	ENSG00000070729	ENST00000251102	D	0.96940	-4.18	5.46	5.46	0.80206	.	0.169139	0.37053	N	0.002266	D	0.97216	0.9090	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	D	0.96877	0.9643	10	0.51188	T	0.08	.	13.0314	0.58845	0.0:0.7343:0.2657:0.0	.	499;1127	Q14028-2;Q14028	.;CNGB1_HUMAN	D	1127	ENSP00000251102:G1127D	ENSP00000251102:G1127D	G	-	2	0	CNGB1	56479342	0.998000	0.40836	1.000000	0.80357	0.143000	0.21401	1.960000	0.40422	2.567000	0.86603	0.563000	0.77884	GGC		0.612	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		4	142	0	0	0	0.000248	0	4	142				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	40	0	0	0	0.002780	0	24	40				
CLSTN1	22883	broad.mit.edu	37	1	9804008	9804008	+	Silent	SNP	G	G	A			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr1:9804008G>A	ENST00000377298.4	-	9	2082	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	CLSTN1_ENST00000377288.3_Silent_p.L430L|CLSTN1_ENST00000361311.4_Silent_p.L420L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	430					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGACGGAAGAGGAAGATCA	0.483																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1288-1290)ctC>ctT		calsyntenin 1							106.0	114.0	111.0					1																	9804008		2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9804008G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1290C>T	1.37:g.9804008G>A						CLSTN1_ENST00000361311.4_Silent_p.L420L|CLSTN1_ENST00000377288.3_Silent_p.L430L	p.L430L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	9	2082	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	430					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.1290C>T	CCDS30580.1																																																																																				0.483	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			6	110	0	0	0	0.001168	0	6	110				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	203	1	0	0.00307968	0.003080	0.0057744	6	203				
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		3	3						3	3	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36276206	36276224	+	Frame_Shift_Del	DEL	GGGGGCACCCGTGCCCCAC	GGGGGCACCCGTGCCCCAC	-	rs145114644		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr19:36276206_36276224delGGGGGCACCCGTGCCCCAC	ENST00000007510.4	+	18	1981_1999	c.1837_1855delGGGGGCACCCGTGCCCCAC	c.(1837-1857)gggggcacccgtgccccaccgfs	p.GGTRAPP613fs	ARHGAP33_ENST00000378944.5_Frame_Shift_Del_p.GGTRAPP477fs|ARHGAP33_ENST00000314737.5_Frame_Shift_Del_p.GGTRAPP613fs			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	613					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.T615T(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCCCTGGCTGGGGGGCACCCGTGCCCCACCGCAGCCTTC	0.685																																						ENST00000007510.4																			1	Substitution - coding silent(1)	p.T615T(1)	pancreas(1)	endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1837-1857)cgfs		Rho GTPase activating protein 33																																				SO:0001589	frameshift_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36276206_36276224delGGGGGCACCCGTGCCCCAC	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1837_1855delGGGGGCACCCGTGCCCCAC	19.37:g.36276206_36276224delGGGGGCACCCGTGCCCCAC	ENSP00000007510:p.Gly613fs					ARHGAP33_ENST00000378944.5_Frame_Shift_Del_p.GGTRAPP477fs|ARHGAP33_ENST00000314737.5_Frame_Shift_Del_p.GGTRAPP613fs	p.GGTRAPP613fs			O14559	RHG33_HUMAN			18	1981_1999	+			613					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Frame_Shift_Del	DEL	ENST00000007510.4	37	c.1837_1855delGGGGGCACCCGTGCCCCAC																																																																																					0.685	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		14	37						14	37	---	---	---	---
NDUFA6	4700	broad.mit.edu	37	22	42482290	42482293	+	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr22:42482290_42482293delTTAA	ENST00000498737.2	-	3	491_494	c.359_362delTTAA	c.(358-363)attaaafs	p.IK120fs	NDUFA6_ENST00000470753.1_Frame_Shift_Del_p.IK37fs|NDUFA6_ENST00000602404.1_Frame_Shift_Del_p.IK94fs	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	120					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						CTTCCATACTTTAATTGTTTCTTC	0.451																																						ENST00000498737.2																			0				kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(358-363)aafs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4700				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr22:42482290_42482293delTTAA	AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7690	protein-coding gene	gene with protein product	"""complex I B14 subunit"""	602138	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"""			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.359_362delTTAA	22.37:g.42482290_42482293delTTAA	ENSP00000418842:p.Ile120fs					NDUFA6_ENST00000470753.1_Frame_Shift_Del_p.IK37fs|NDUFA6_ENST00000602404.1_Frame_Shift_Del_p.IK94fs|SMDT1_ENST00000547929.1_Intron	p.IK120fs	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN			3	491_494	-			120					B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Frame_Shift_Del	DEL	ENST00000498737.2	37	c.359_362delTTAA	CCDS33656.1																																																																																				0.451	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4	NM_002490		23	34						23	34	---	---	---	---
