#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
TM2D1	83941	broad.mit.edu	37	1	62174999	62174999	+	Splice_Site	SNP	A	A	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:62174999A>C	ENST00000606498.1	-	3	368		c.e3+1		TM2D1_ENST00000472989.1_Splice_Site|TM2D1_ENST00000371180.2_Splice_Site|TM2D1_ENST00000294613.5_Splice_Site|TM2D1_ENST00000371177.2_Splice_Site			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						TAATGTACTTACACATTTCGG	0.358																																																0			1											75.0	71.0	72.0					1																	62174999		1839	4082	5921	61947587	SO:0001630	splice_region_variant	83941			AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.347+1T>G	1.37:g.62174999A>C			61947587	A6NDA8	Splice_Site	SNP	ENST00000606498.1	37		.	.	.	.	.	.	.	.	.	.	A	18.43	3.621859	0.66787	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3315	0.66559	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TM2D1	61947587	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.512000	0.73737	2.226000	0.72624	0.482000	0.46254	.		0.358	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027	Intron
VAV3	10451	broad.mit.edu	37	1	108311108	108311108	+	Silent	SNP	T	T	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:108311108T>C	ENST00000370056.4	-	7	946	c.672A>G	c.(670-672)agA>agG	p.R224R	VAV3_ENST00000371846.4_Silent_p.R159R|VAV3_ENST00000527011.1_Silent_p.R224R|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	224	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.R224R(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTGTCAGAAATCTTTTTAGTG	0.294																																																1	Substitution - coding silent(1)	ovary(1)	1											87.0	87.0	87.0					1																	108311108		2203	4296	6499	108112631	SO:0001819	synonymous_variant	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.672A>G	1.37:g.108311108T>C			108112631	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342568	0.24339	.	.	ENSG00000134215	ENST00000490388	.	.	.	5.47	1.93	0.25924	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23940	-1.0174	4	.	.	.	.	6.8715	0.24123	0.0:0.4768:0.0:0.5232	.	.	.	.	G	219	.	.	D	-	2	0	VAV3	108112631	0.988000	0.35896	1.000000	0.80357	0.979000	0.70002	0.105000	0.15333	0.373000	0.24621	0.379000	0.24179	GAT		0.294	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
GNAI3	2773	broad.mit.edu	37	1	110116390	110116390	+	Silent	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:110116390G>A	ENST00000369851.4	+	2	260	c.150G>A	c.(148-150)gtG>gtA	p.V50V		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	50					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V50V(1)		NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GCACCATTGTGAAACAGATGA	0.333																																																1	Substitution - coding silent(1)	ovary(1)	1											150.0	144.0	146.0					1																	110116390		2203	4300	6503	109917913	SO:0001819	synonymous_variant	2773			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.150G>A	1.37:g.110116390G>A			109917913	P17539|Q5TZX1	Silent	SNP	ENST00000369851.4	37	CCDS802.1																																																																																				0.333	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496	
SNX27	81609	broad.mit.edu	37	1	151641080	151641080	+	Missense_Mutation	SNP	A	A	G	rs149636067		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:151641080A>G	ENST00000458013.2	+	7	1238	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S	SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.N280S|SNX27_ENST00000368843.3_Missense_Mutation_p.N373S			Q96L92	SNX27_HUMAN	sorting nexin family member 27	373	FERM-like region F2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.N373S(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTAAATGACAATGACCTTGCT	0.363																																					Colon(46;291 966 40145 41237 41888)											1	Substitution - Missense(1)	ovary(1)	1						A	SER/ASN	0,4406		0,0,2203	80.0	78.0	79.0		1118	5.1	1.0	1	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNX27	NM_030918.5	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	373/529	151641080	1,13005	2203	4300	6503	149907704	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1118A>G	1.37:g.151641080A>G	ENSP00000400333:p.Asn373Ser		149907704	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37		.	.	.	.	.	.	.	.	.	.	A	13.49	2.252180	0.39797	0.0	1.16E-4	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.49432	0.78;0.79;1.0	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.57536	1.79	0.58432	D	0.999998	B;B	0.23990	0.034;0.095	B;B	0.15484	0.006;0.013	T	0.10917	-1.0609	10	0.25106	T	0.35	.	13.853	0.63508	1.0:0.0:0.0:0.0	.	373;373	Q96L92;Q96L92-3	SNX27_HUMAN;.	S	373;373;280	ENSP00000400333:N373S;ENSP00000357836:N373S;ENSP00000357831:N280S	ENSP00000357831:N280S	N	+	2	0	SNX27	149907704	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.426000	0.90273	2.145000	0.66743	0.254000	0.18369	AAT		0.363	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918	
RHBG	57127	broad.mit.edu	37	1	156348062	156348062	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:156348062C>A	ENST00000368249.1	+	4	583	c.545C>A	c.(544-546)tCc>tAc	p.S182Y	RHBG_ENST00000368246.2_Missense_Mutation_p.S182Y|RHBG_ENST00000451864.2_Missense_Mutation_p.S150Y|RHBG_ENST00000400992.2_Missense_Mutation_p.S150Y|RHBG_ENST00000255013.3_Missense_Mutation_p.S113Y|RHBG_ENST00000537040.1_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	182					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.S182Y(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCCGGAGGCTCCATGACTATC	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											70.0	77.0	75.0					1																	156348062		2055	4227	6282	154614686	SO:0001583	missense	57127			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.545C>A	1.37:g.156348062C>A	ENSP00000357232:p.Ser182Tyr		154614686	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		.	.	.	.	.	.	.	.	.	.	C	20.3	3.965274	0.74131	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	4.68	4.68	0.58851	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.64983	0.2648	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	0.983;0.998;1.0	P;D;D	0.87578	0.9;0.961;0.998	T	0.75728	-0.3216	10	0.87932	D	0	-12.4595	16.3174	0.82932	0.0:1.0:0.0:0.0	.	182;150;219	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	Y	182;182;150;113;150	ENSP00000357232:S182Y;ENSP00000357229:S182Y;ENSP00000383777:S150Y;ENSP00000255013:S113Y;ENSP00000389836:S150Y	ENSP00000255013:S113Y	S	+	2	0	RHBG	154614686	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.462000	0.80851	2.415000	0.81967	0.511000	0.50034	TCC		0.662	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395	
IRF6	3664	broad.mit.edu	37	1	209968703	209968703	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr1:209968703T>C	ENST00000367021.3	-	5	612	c.440A>G	c.(439-441)gAa>gGa	p.E147G	IRF6_ENST00000542854.1_Missense_Mutation_p.E52G	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	147					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E147G(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAGCTCATCTTCCTCATCTTC	0.517										HNSCC(57;0.16)																																						1	Substitution - Missense(1)	ovary(1)	1											330.0	239.0	270.0					1																	209968703		2203	4300	6503	208035326	SO:0001583	missense	3664			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.440A>G	1.37:g.209968703T>C	ENSP00000355988:p.Glu147Gly		208035326	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547585	0.45383	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.97959	-4.55;-4.06;-4.63	5.4	5.4	0.78164	.	0.516015	0.21408	N	0.075022	D	0.93939	0.8060	N	0.19112	0.55	0.80722	D	1	B	0.15719	0.014	B	0.15484	0.013	D	0.91328	0.5087	9	.	.	.	.	15.4348	0.75137	0.0:0.0:0.0:1.0	.	147	O14896	IRF6_HUMAN	G	147;52;147	ENSP00000355988:E147G;ENSP00000440532:E52G;ENSP00000403855:E147G	.	E	-	2	0	IRF6	208035326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.601000	0.67606	2.048000	0.60808	0.533000	0.62120	GAA		0.517	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	
A2ML1	144568	broad.mit.edu	37	12	9020925	9020925	+	Nonsense_Mutation	SNP	C	C	T	rs374267852		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr12:9020925C>T	ENST00000299698.7	+	31	4213	c.4033C>T	c.(4033-4035)Cga>Tga	p.R1345*	A2ML1_ENST00000539547.1_Nonsense_Mutation_p.R854*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.R1345*(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GACTTCACCTCGATCCTTGAC	0.488																																																1	Substitution - Nonsense(1)	ovary(1)	12						C	stop/ARG	0,3940		0,0,1970	159.0	156.0	157.0		4033	0.5	0.2	12		157	1,8321		0,1,4160	no	stop-gained	A2ML1	NM_144670.3		0,1,6130	TT,TC,CC		0.012,0.0,0.0082		1345/1455	9020925	1,12261	1970	4161	6131	8912192	SO:0001587	stop_gained	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.4033C>T	12.37:g.9020925C>T	ENSP00000299698:p.Arg1345*		8912192		Nonsense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	40	8.231816	0.98717	0.0	1.2E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	.	.	.	3.69	0.518	0.17030	.	4.993110	0.00691	N	0.000724	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	6.3487	0.21363	0.3686:0.3182:0.3132:0.0	.	.	.	.	X	1345;1345;895;854	.	ENSP00000299698:R1345X	R	+	1	2	A2ML1	8912192	0.000000	0.05858	0.232000	0.24009	0.127000	0.20565	0.265000	0.18515	0.098000	0.17522	0.561000	0.74099	CGA		0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
LRRK2	120892	broad.mit.edu	37	12	40668477	40668477	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr12:40668477A>C	ENST00000298910.7	+	15	1807	c.1749A>C	c.(1747-1749)gaA>gaC	p.E583D	LRRK2_ENST00000343742.2_Missense_Mutation_p.E583D	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	583					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.E583D(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TATCCCTGGAAGGTGCTATGG	0.363																																																2	Substitution - Missense(2)	ovary(2)	12											151.0	149.0	150.0					12																	40668477		2203	4300	6503	38954744	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1749A>C	12.37:g.40668477A>C	ENSP00000298910:p.Glu583Asp		38954744	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.579276	0.46006	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.65364	-0.15;1.18;1.18	5.97	-1.22	0.09494	Armadillo-like helical (1);Armadillo-type fold (1);	0.163970	0.56097	D	0.000036	T	0.35158	0.0922	N	0.14661	0.345	0.22835	N	0.998679	B;B	0.21309	0.003;0.054	B;B	0.21360	0.002;0.034	T	0.09465	-1.0673	10	0.33940	T	0.23	.	4.1581	0.10270	0.4765:0.0:0.3018:0.2217	.	583;583	E9PC85;Q5S007	.;LRRK2_HUMAN	D	331;583;583	ENSP00000398726:E331D;ENSP00000341930:E583D;ENSP00000298910:E583D	ENSP00000298910:E583D	E	+	3	2	LRRK2	38954744	1.000000	0.71417	0.996000	0.52242	0.658000	0.38924	0.891000	0.28309	-0.196000	0.10366	0.477000	0.44152	GAA		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
ADAMTS20	80070	broad.mit.edu	37	12	43824219	43824219	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr12:43824219T>A	ENST00000389420.3	-	23	3316	c.3317A>T	c.(3316-3318)gAg>gTg	p.E1106V	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E260V|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1106V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1106	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E1106V(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTAGCTAGCTCATTGACACA	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											153.0	131.0	138.0					12																	43824219		2203	4300	6503	42110486	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3317A>T	12.37:g.43824219T>A	ENSP00000374071:p.Glu1106Val		42110486	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	t	15.65	2.895929	0.52121	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.3	2.79	0.32731	.	0.553881	0.16200	N	0.224952	T	0.35508	0.0934	N	0.21097	0.63	0.26810	N	0.969027	P;P	0.50528	0.664;0.936	B;P	0.45712	0.326;0.491	T	0.09015	-1.0694	10	0.21540	T	0.41	.	4.4793	0.11759	0.0:0.2073:0.1706:0.6221	.	1106;260	P59510;E9PBD5	ATS20_HUMAN;.	V	1106;272;260;1106;1106	ENSP00000374071:E1106V;ENSP00000447427:E272V;ENSP00000378911:E260V;ENSP00000448341:E1106V	ENSP00000374068:E1106V	E	-	2	0	ADAMTS20	42110486	0.996000	0.38824	0.470000	0.27216	0.060000	0.15804	3.585000	0.53943	1.113000	0.41760	0.454000	0.30748	GAG		0.383	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
TRPC4	7223	broad.mit.edu	37	13	38225457	38225457	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr13:38225457G>A	ENST00000379705.3	-	8	2881	c.2024C>T	c.(2023-2025)aCa>aTa	p.T675I	TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.T675I|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.T675I|TRPC4_ENST00000379679.1_Missense_Mutation_p.T502I|TRPC4_ENST00000355779.2_Missense_Mutation_p.T675I|TRPC4_ENST00000379681.3_Missense_Mutation_p.T675I|TRPC4_ENST00000338947.5_Missense_Mutation_p.T502I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	675	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.T675I(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GCACAAGTGTGTCCAGATCCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	13											136.0	133.0	134.0					13																	38225457		2203	4300	6503	37123457	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2024C>T	13.37:g.38225457G>A	ENSP00000369027:p.Thr675Ile		37123457	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095181	0.36952	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.7	4.8	0.61643	.	0.360627	0.34411	N	0.003998	T	0.63628	0.2527	N	0.02916	-0.46	0.80722	D	1	B;B;B;B;B	0.22983	0.017;0.078;0.043;0.043;0.025	B;B;B;B;B	0.29077	0.037;0.022;0.098;0.037;0.017	T	0.61535	-0.7043	10	0.35671	T	0.21	-27.888	9.3542	0.38157	0.0:0.2472:0.6265:0.1264	.	675;675;502;675;675	Q9UBN4-3;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	I	675;675;502;502;675;675;675	ENSP00000369027:T675I;ENSP00000369003:T675I;ENSP00000342580:T502I;ENSP00000369001:T502I;ENSP00000348025:T675I;ENSP00000351264:T675I;ENSP00000414316:T675I	ENSP00000342580:T502I	T	-	2	0	TRPC4	37123457	0.871000	0.30034	0.998000	0.56505	0.993000	0.82548	1.371000	0.34250	2.701000	0.92244	0.561000	0.74099	ACA		0.403	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
NPAP1	23742	broad.mit.edu	37	15	24921536	24921536	+	Silent	SNP	C	C	T	rs368120585		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr15:24921536C>T	ENST00000329468.2	+	1	996	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	174					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D174D(2)									GGGAGGATGACGAGAAAAGGA	0.622																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	15						C		1,4405		0,1,2202	48.0	41.0	43.0		522	-5.4	0.0	15		43	0,8600		0,0,4300	no	coding-synonymous	C15orf2	NM_018958.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		174/1157	24921536	1,13005	2203	4300	6503	22472629	SO:0001819	synonymous_variant	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.522C>T	15.37:g.24921536C>T			22472629		Silent	SNP	ENST00000329468.2	37	CCDS10015.1																																																																																				0.622	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
CEMIP	57214	broad.mit.edu	37	15	81173442	81173442	+	Silent	SNP	C	C	T	rs146635298	byFrequency	TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr15:81173442C>T	ENST00000394685.3	+	6	1001	c.582C>T	c.(580-582)atC>atT	p.I194I	KIAA1199_ENST00000220244.3_Silent_p.I194I|KIAA1199_ENST00000356249.5_Silent_p.I194I			Q8WUJ3	CEMIP_HUMAN		194					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.I194I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCATGTCATCGACCCCAAAT	0.468													C|||	5	0.000998403	0.0008	0.0043	5008	,	,		21618	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	15						C		10,4396	16.8+/-37.8	0,10,2193	188.0	170.0	176.0		582	-2.4	1.0	15	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous	KIAA1199	NM_018689.1		0,10,6493	TT,TC,CC		0.0,0.227,0.0769		194/1362	81173442	10,12996	2203	4300	6503	78960497	SO:0001819	synonymous_variant	57214																														ENST00000394685.3:c.582C>T	15.37:g.81173442C>T			78960497	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																				0.468	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
BNC1	646	broad.mit.edu	37	15	83932792	83932792	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr15:83932792C>T	ENST00000345382.2	-	4	1296	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R397H	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	404					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R404H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGCGCTATGGCGATTCCGGCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	15											170.0	159.0	163.0					15																	83932792		2203	4300	6503	81723796	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1211G>A	15.37:g.83932792C>T	ENSP00000307041:p.Arg404His		81723796	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745100	0.89663	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.30981	1.51	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.65261	-0.6211	10	0.87932	D	0	-33.1899	19.4213	0.94723	0.0:1.0:0.0:0.0	.	397;404	F5GY04;Q01954	.;BNC1_HUMAN	H	404;397	ENSP00000307041:R404H	ENSP00000307041:R404H	R	-	2	0	BNC1	81723796	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.755000	0.85180	2.589000	0.87451	0.655000	0.94253	CGC		0.527	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
TSC2	7249	broad.mit.edu	37	16	2129153	2129153	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr16:2129153G>T	ENST00000219476.3	+	27	3717	c.3087G>T	c.(3085-3087)atG>atT	p.M1029I	TSC2_ENST00000353929.4_Missense_Mutation_p.M986I|TSC2_ENST00000401874.2_Missense_Mutation_p.M985I|TSC2_ENST00000568454.1_Missense_Mutation_p.M996I|TSC2_ENST00000382538.6_Missense_Mutation_p.M937I|TSC2_ENST00000439673.2_Missense_Mutation_p.M949I|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000350773.4_Missense_Mutation_p.M1029I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1029					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.M1029I(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GTCTGGACATGATGGCTCGAT	0.622			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	2	Substitution - Missense(2)	ovary(2)	16											124.0	99.0	108.0					16																	2129153		2198	4300	6498	2069154	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3087G>T	16.37:g.2129153G>T	ENSP00000219476:p.Met1029Ile		2069154	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211231	0.95069	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.91686	-2.63;-2.89;-2.62;-2.68;-2.65;-2.6	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.95370	0.8497	M	0.61703	1.905	0.80722	D	1	D;P;D;P;D;P	0.56521	0.964;0.93;0.976;0.956;0.975;0.74	D;P;D;D;D;P	0.73380	0.968;0.835;0.92;0.98;0.974;0.577	D	0.95495	0.8572	10	0.59425	D	0.04	-47.9348	18.5973	0.91234	0.0:0.0:1.0:0.0	.	937;949;1029;985;985;1029	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	I	1029;986;986;949;937;1029	ENSP00000219476:M1029I;ENSP00000384468:M986I;ENSP00000248099:M986I;ENSP00000399232:M949I;ENSP00000371978:M937I;ENSP00000344383:M1029I	ENSP00000219476:M1029I	M	+	3	0	TSC2	2069154	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.787000	0.99055	2.389000	0.81357	0.655000	0.94253	ATG		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
SCN4A	6329	broad.mit.edu	37	17	62024486	62024486	+	Silent	SNP	C	C	T	rs377187913		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr17:62024486C>T	ENST00000435607.1	-	18	3436	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	SCN4A_ENST00000578147.1_Silent_p.S1120S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1120					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S1120S(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCCCAGCTCCGAGTAGCCCA	0.667											OREG0024655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	17						C		1,4159		0,1,2079	60.0	70.0	67.0		3360	-6.2	1.0	17		67	1,8403		0,1,4201	no	coding-synonymous	SCN4A	NM_000334.4		0,2,6280	TT,TC,CC		0.0119,0.024,0.0159		1120/1837	62024486	2,12562	2080	4202	6282	59378218	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3360G>A	17.37:g.62024486C>T		1058	59378218	Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																				0.667	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
CNDP2	55748	broad.mit.edu	37	18	72183571	72183571	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr18:72183571G>A	ENST00000324262.4	+	9	1328	c.1012G>A	c.(1012-1014)Ggc>Agc	p.G338S	CNDP2_ENST00000579847.1_Missense_Mutation_p.G338S|CNDP2_ENST00000324301.8_Missense_Mutation_p.G254S	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	338					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.G338S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GAAGGTGGTTGGCAAGTTCTC	0.627																																																1	Substitution - Missense(1)	ovary(1)	18											122.0	94.0	104.0					18																	72183571		2203	4300	6503	70334551	SO:0001583	missense	55748			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1012G>A	18.37:g.72183571G>A	ENSP00000325548:p.Gly338Ser		70334551	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283965	0.80803	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.56776	0.44;0.44	5.44	5.44	0.79542	Peptidase M20, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.82623	-0.0366	10	0.87932	D	0	7.4759	19.2585	0.93957	0.0:0.0:1.0:0.0	.	254;338	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	S	338;254	ENSP00000325548:G338S;ENSP00000325756:G254S	ENSP00000325548:G338S	G	+	1	0	CNDP2	70334551	1.000000	0.71417	0.954000	0.39281	0.034000	0.12701	9.756000	0.98918	2.552000	0.86080	0.591000	0.81541	GGC		0.627	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235	
RDH8	50700	broad.mit.edu	37	19	10132084	10132084	+	Silent	SNP	C	C	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr19:10132084C>T	ENST00000171214.1	+	5	939	c.690C>T	c.(688-690)tcC>tcT	p.S230S	RDH8_ENST00000591589.1_Silent_p.S250S	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	230					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.S230S(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TGTTTTGCTCCGTGGGACAGA	0.617																																																1	Substitution - coding silent(1)	ovary(1)	19											75.0	73.0	74.0					19																	10132084		2203	4300	6503	9993084	SO:0001819	synonymous_variant	50700			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.690C>T	19.37:g.10132084C>T			9993084	Q9H838	Silent	SNP	ENST00000171214.1	37																																																																																					0.617	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
NCAN	1463	broad.mit.edu	37	19	19339041	19339041	+	Missense_Mutation	SNP	C	C	T	rs145824706		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr19:19339041C>T	ENST00000252575.6	+	8	2711	c.2612C>T	c.(2611-2613)aCg>aTg	p.T871M	NCAN_ENST00000538881.1_Missense_Mutation_p.T322M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	871					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.T871M(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGCATTGTGACGCCCCTCACG	0.577																																																1	Substitution - Missense(1)	ovary(1)	19						C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	85.0	89.0	87.0		2612	-3.8	0.0	19	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	NCAN	NM_004386.2	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	871/1322	19339041	2,13004	2203	4300	6503	19200041	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2612C>T	19.37:g.19339041C>T	ENSP00000252575:p.Thr871Met		19200041	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	8.787	0.929745	0.18131	2.27E-4	1.16E-4	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.88586	-2.1;-2.4	4.08	-3.77	0.04346	.	0.767725	0.11094	N	0.600387	T	0.70570	0.3239	N	0.14661	0.345	0.09310	N	1	B;B	0.34181	0.44;0.27	B;B	0.20955	0.032;0.016	T	0.60372	-0.7276	10	0.33141	T	0.24	.	5.2882	0.15712	0.0:0.304:0.1592:0.5368	.	885;871	Q4LE67;O14594	.;NCAN_HUMAN	M	885;871;322	ENSP00000252575:T871M;ENSP00000442202:T322M	ENSP00000252575:T871M	T	+	2	0	NCAN	19200041	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.423000	0.07034	-0.551000	0.06175	-0.339000	0.08088	ACG		0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
ZNF536	9745	broad.mit.edu	37	19	30936480	30936480	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr19:30936480C>T	ENST00000355537.3	+	2	2158	c.2011C>T	c.(2011-2013)Cgg>Tgg	p.R671W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	671					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R671W(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTGGATGAGCGGCGTGGCTC	0.697																																																1	Substitution - Missense(1)	ovary(1)	19											38.0	42.0	40.0					19																	30936480		2203	4298	6501	35628320	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2011C>T	19.37:g.30936480C>T	ENSP00000347730:p.Arg671Trp		35628320	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928854	0.52759	.	.	ENSG00000198597	ENST00000355537	T	0.11277	2.79	5.42	1.89	0.25635	.	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	N	0.24115	0.695	0.48901	D	0.999728	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.02391	-1.1166	10	0.87932	D	0	-32.6045	14.7741	0.69703	0.5321:0.4679:0.0:0.0	.	671;671	A7E228;O15090	.;ZN536_HUMAN	W	671	ENSP00000347730:R671W	ENSP00000347730:R671W	R	+	1	2	ZNF536	35628320	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	1.792000	0.38754	0.566000	0.29273	0.655000	0.94253	CGG		0.697	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
SP100	6672	broad.mit.edu	37	2	231331929	231331929	+	Splice_Site	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr2:231331929G>A	ENST00000264052.5	+	13	1645	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K	SP100_ENST00000340126.4_Splice_Site_p.K430K|SP100_ENST00000409824.1_Splice_Site_p.K405K|SP100_ENST00000409112.1_Splice_Site_p.K430K|SP100_ENST00000409341.1_Splice_Site_p.K430K|SP100_ENST00000341950.4_Splice_Site_p.K430K|SP100_ENST00000427101.2_Intron|SP100_ENST00000409897.1_Splice_Site_p.K395K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	430	Sufficient to mediate interaction with ETS1.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.K430N(2)|p.K430K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGTGAGAAGGGTAAGAACA	0.557																																																3	Substitution - Missense(2)|Substitution - coding silent(1)	lung(2)|ovary(1)	2											103.0	111.0	108.0					2																	231331929		2203	4300	6503	231040173	SO:0001630	splice_region_variant	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1291+1G>A	2.37:g.231331929G>A			231040173	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	1.063	-0.672144	0.03403	.	.	ENSG00000067066	ENST00000413284	.	.	.	3.78	-6.09	0.02145	.	.	.	.	.	T	0.15305	0.0369	.	.	.	0.20638	N	0.999872	.	.	.	.	.	.	T	0.22347	-1.0219	4	.	.	.	.	0.6459	0.00818	0.3665:0.1209:0.1624:0.3502	.	.	.	.	K	78	.	.	R	+	2	0	SP100	231040173	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	-1.030000	0.03581	-1.564000	0.01678	-0.493000	0.04662	AGG		0.557	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113	Silent
GIGYF2	26058	broad.mit.edu	37	2	233659580	233659580	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr2:233659580G>T	ENST00000409547.1	+	15	1716	c.1405G>T	c.(1405-1407)Gtt>Ttt	p.V469F	GIGYF2_ENST00000452341.2_Missense_Mutation_p.V300F|GIGYF2_ENST00000373563.4_Missense_Mutation_p.V469F|GIGYF2_ENST00000409480.1_Missense_Mutation_p.V491F|GIGYF2_ENST00000409451.3_Missense_Mutation_p.V490F|GIGYF2_ENST00000373566.3_Missense_Mutation_p.V491F|GIGYF2_ENST00000409196.3_Missense_Mutation_p.V463F	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	469	Pro-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.V469F(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGAAACACCAGTTGTAGGTGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											240.0	241.0	241.0					2																	233659580		2203	4300	6503	233367824	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1405G>T	2.37:g.233659580G>T	ENSP00000386537:p.Val469Phe		233367824	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894942	0.33442	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.75367	-0.72;-0.73;-0.72;-0.73;-0.93;-0.72;-0.73;-0.88;-0.58	4.92	4.04	0.47022	.	0.285366	0.33057	N	0.005324	T	0.81536	0.4843	L	0.55481	1.735	0.09310	N	1	D;D;B;D	0.76494	0.999;0.997;0.145;0.998	D;P;B;P	0.68483	0.958;0.798;0.058;0.852	T	0.73613	-0.3927	10	0.51188	T	0.08	-5.2888	13.2994	0.60315	0.0772:0.0:0.9227:0.0	.	300;490;469;463	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	F	491;412;469;491;469;469;412;463;490;463;300	ENSP00000362667:V491F;ENSP00000362664:V469F;ENSP00000386765:V491F;ENSP00000386537:V469F;ENSP00000404195:V412F;ENSP00000387070:V463F;ENSP00000387170:V490F;ENSP00000410297:V463F;ENSP00000411505:V300F	ENSP00000362664:V469F	V	+	1	0	GIGYF2	233367824	0.990000	0.36364	0.005000	0.12908	0.566000	0.35808	4.753000	0.62183	1.205000	0.43262	0.563000	0.77884	GTT		0.473	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
TTI1	9675	broad.mit.edu	37	20	36641782	36641782	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr20:36641782G>C	ENST00000373448.2	-	3	675	c.437C>G	c.(436-438)tCc>tGc	p.S146C	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.S146C|TTI1_ENST00000373447.3_Missense_Mutation_p.S146C	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	146					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.S146C(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGGCAGAATGGAGGGCTCATA	0.428																																																1	Substitution - Missense(1)	ovary(1)	20											80.0	79.0	80.0					20																	36641782		2203	4300	6503	36075196	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.437C>G	20.37:g.36641782G>C	ENSP00000362547:p.Ser146Cys		36075196	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	7.836	0.720803	0.15372	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.67523	-0.27;-0.27;-0.27	5.35	3.3	0.37823	Armadillo-type fold (1);	0.637433	0.17507	N	0.171774	T	0.58736	0.2143	L	0.38838	1.175	0.41784	D	0.989836	B	0.06786	0.001	B	0.08055	0.003	T	0.59825	-0.7381	10	0.54805	T	0.06	-21.3948	16.4489	0.83973	0.0:0.2609:0.7391:0.0	.	146	O43156	TTI1_HUMAN	C	146	ENSP00000362547:S146C;ENSP00000362546:S146C;ENSP00000407270:S146C	ENSP00000362546:S146C	S	-	2	0	TTI1	36075196	0.960000	0.32886	1.000000	0.80357	0.987000	0.75469	2.143000	0.42187	1.479000	0.48272	0.555000	0.69702	TCC		0.428	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657	
PIGZ	80235	broad.mit.edu	37	3	196674486	196674486	+	Missense_Mutation	SNP	C	C	T	rs539732732		TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr3:196674486C>T	ENST00000412723.1	-	3	1428	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	428					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)	p.G428S(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TGCAGGCAGCCGAAGAGGAGG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		19358	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	3											41.0	39.0	40.0					3																	196674486		2203	4300	6503	198158883	SO:0001583	missense	80235			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1282G>A	3.37:g.196674486C>T	ENSP00000413405:p.Gly428Ser		198158883	Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174788	0.78452	.	.	ENSG00000119227	ENST00000412723	T	0.64991	-0.13	5.0	5.0	0.66597	.	0.000000	0.53938	D	0.000048	D	0.82967	0.5152	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85763	0.1350	10	0.52906	T	0.07	-18.2499	17.6591	0.88187	0.0:1.0:0.0:0.0	.	428	Q86VD9	PIGZ_HUMAN	S	428	ENSP00000413405:G428S	ENSP00000413405:G428S	G	-	1	0	PIGZ	198158883	1.000000	0.71417	0.998000	0.56505	0.778000	0.44026	5.114000	0.64648	2.499000	0.84300	0.561000	0.74099	GGC		0.647	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163	
ADAMTS16	170690	broad.mit.edu	37	5	5235235	5235235	+	Silent	SNP	C	C	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr5:5235235C>T	ENST00000274181.7	+	13	2097	c.1959C>T	c.(1957-1959)gcC>gcT	p.A653A	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	653	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A653A(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTCAGTGTGCCGAGCACAACA	0.522																																																4	Substitution - coding silent(4)	ovary(2)|lung(2)	5											76.0	80.0	78.0					5																	5235235		1955	4151	6106	5288235	SO:0001819	synonymous_variant	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1959C>T	5.37:g.5235235C>T			5288235	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	CCDS43299.1																																																																																				0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
STC2	8614	broad.mit.edu	37	5	172744869	172744869	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr5:172744869T>A	ENST00000265087.4	-	4	2199	c.890A>T	c.(889-891)tAt>tTt	p.Y297F	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	297					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.Y297F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GATATCAGAATACTCAGACTG	0.532																																																1	Substitution - Missense(1)	ovary(1)	5											85.0	90.0	88.0					5																	172744869		2203	4300	6503	172677475	SO:0001583	missense	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.890A>T	5.37:g.172744869T>A	ENSP00000265087:p.Tyr297Phe		172677475		Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547452	0.45383	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.3	4.13	0.48395	.	0.362079	0.30752	N	0.008957	T	0.22820	0.0551	N	0.14661	0.345	0.25960	N	0.982634	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	9	0.14656	T	0.56	-13.0319	9.3871	0.38349	0.4484:0.0:0.0:0.5516	.	297	O76061	STC2_HUMAN	F	297	.	ENSP00000265087:Y297F	Y	-	2	0	STC2	172677475	1.000000	0.71417	0.988000	0.46212	0.951000	0.60555	3.353000	0.52247	0.830000	0.34757	0.528000	0.53228	TAT		0.532	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714	
PPP1R10	5514	broad.mit.edu	37	6	30572408	30572408	+	Silent	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr6:30572408G>A	ENST00000376511.2	-	12	1611	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	353					protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)	p.G353G(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GAACCGGGGTGCCTGGACGGT	0.552																																																1	Substitution - coding silent(1)	ovary(1)	6											273.0	291.0	285.0					6																	30572408		1511	2709	4220	30680387	SO:0001819	synonymous_variant	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1059C>T	6.37:g.30572408G>A			30680387	O00405	Silent	SNP	ENST00000376511.2	37	CCDS4681.1																																																																																				0.552	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714	
RARS2	57038	broad.mit.edu	37	6	88258335	88258335	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr6:88258335A>C	ENST00000369536.5	-	6	470	c.425T>G	c.(424-426)gTt>gGt	p.V142G		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	142					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.V142G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CAAATGTCCAACATGAAATTT	0.318																																																1	Substitution - Missense(1)	ovary(1)	6											73.0	70.0	71.0					6																	88258335		2203	4300	6503	88315054	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.425T>G	6.37:g.88258335A>C	ENSP00000358549:p.Val142Gly		88315054	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.59|17.59	3.427989|3.427989	0.62733|0.62733	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000451155|ENST00000369536;ENST00000369523	.|T	.|0.69806	.|-0.43	5.63|5.63	4.46|4.46	0.54185|0.54185	.|Aminoacyl-tRNA synthetase, class I, conserved site (1);Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	.|0.167697	.|0.52532	.|D	.|0.000070	T|T	0.77837|0.77837	0.4190|0.4190	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|P	.|0.49559	.|0.925	.|P	.|0.62649	.|0.905	T|T	0.81820|0.81820	-0.0757|-0.0757	5|10	.|0.87932	.|D	.|0	.|.	10.4176|10.4176	0.44331|0.44331	0.9218:0.0:0.0782:0.0|0.9218:0.0:0.0782:0.0	.|.	.|142	.|Q5T160	.|SYRM_HUMAN	V|G	170|142;169	.|ENSP00000358549:V142G	.|ENSP00000358536:V169G	L|V	-|-	1|2	2|0	RARS2|RARS2	88315054|88315054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.210000|4.210000	0.58500|0.58500	2.261000|2.261000	0.74972|0.74972	0.528000|0.528000	0.53228|0.53228	TTG|GTT		0.318	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320	
BAZ1B	9031	broad.mit.edu	37	7	72891394	72891394	+	Silent	SNP	T	T	C			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr7:72891394T>C	ENST00000339594.4	-	7	2735	c.2397A>G	c.(2395-2397)aaA>aaG	p.K799K	BAZ1B_ENST00000404251.1_Silent_p.K799K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	799					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.K799K(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				cttccatttctttccgtttct	0.398																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											1	Substitution - coding silent(1)	ovary(1)	7											86.0	80.0	82.0					7																	72891394		2203	4300	6503	72529330	SO:0001819	synonymous_variant	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2397A>G	7.37:g.72891394T>C			72529330	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				0.398	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
YWHAG	7532	broad.mit.edu	37	7	75959469	75959469	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr7:75959469G>A	ENST00000307630.3	-	2	391	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	57		Interaction with phosphoserine on interacting protein.			apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)	p.R57C(1)		endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CAGGAAGAGCGGCGTGCCCCC	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											121.0	101.0	108.0					7																	75959469		2203	4300	6503	75797405	SO:0001583	missense	7532			AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"""14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"""	605356	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"""			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.169C>T	7.37:g.75959469G>A	ENSP00000306330:p.Arg57Cys		75797405	O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Missense_Mutation	SNP	ENST00000307630.3	37	CCDS5584.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091380	0.76756	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	T	0.76448	-1.02	5.97	5.08	0.68730	14-3-3 domain (4);	0.047908	0.85682	D	0.000000	D	0.91905	0.7437	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94487	0.7698	10	0.87932	D	0	-20.2272	16.2179	0.82239	0.0:0.1331:0.8669:0.0	.	57	P61981	1433G_HUMAN	C	57;35;57	ENSP00000306330:R57C	ENSP00000306330:R57C	R	-	1	0	YWHAG	75797405	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.838000	0.86804	1.504000	0.48704	0.650000	0.86243	CGC		0.527	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479	
MET	4233	broad.mit.edu	37	7	116339936	116339936	+	Missense_Mutation	SNP	G	G	C	rs185301166	byFrequency	TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr7:116339936G>C	ENST00000318493.6	+	2	985	c.798G>C	c.(796-798)agG>agC	p.R266S	MET_ENST00000397752.3_Missense_Mutation_p.R266S|MET_ENST00000436117.2_Missense_Mutation_p.R266S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R266S(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGGTCCAAAGGGAAACTCTAG	0.388			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	ovary(1)	7											153.0	146.0	148.0					7																	116339936		1845	4104	5949	116127172	SO:0001583	missense	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.798G>C	7.37:g.116339936G>C	ENSP00000317272:p.Arg266Ser		116127172	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086439	0.36855	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11169	2.8;2.8;2.8	6.07	0.637	0.17735	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.312054	0.35151	N	0.003404	T	0.26593	0.0650	M	0.74647	2.275	0.80722	D	1	P;P;P;P;P;P;P;P;D;B;P;B;B	0.61697	0.565;0.732;0.874;0.874;0.874;0.732;0.874;0.874;0.99;0.259;0.732;0.181;0.181	B;P;P;P;P;P;P;P;D;B;P;B;B	0.74674	0.305;0.794;0.794;0.794;0.794;0.794;0.864;0.794;0.984;0.301;0.794;0.287;0.287	T	0.01015	-1.1480	10	0.66056	D	0.02	.	8.1458	0.31110	0.6887:0.0:0.3113:0.0	.	266;266;266;266;266;266;266;266;266;266;266;266;266	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	S	266	ENSP00000380860:R266S;ENSP00000317272:R266S;ENSP00000410980:R266S	ENSP00000317272:R266S	R	+	3	2	MET	116127172	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	0.766000	0.26560	0.167000	0.19631	0.655000	0.94253	AGG		0.388	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
CYP7B1	9420	broad.mit.edu	37	8	65527670	65527670	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr8:65527670G>T	ENST00000310193.3	-	4	1143	c.970C>A	c.(970-972)Cgt>Agt	p.R324S	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	324				R -> H (in Ref. 1; AAC95426). {ECO:0000305}.	bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.R324S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCAGCAAACGGTCAATTTCG	0.468																																																1	Substitution - Missense(1)	ovary(1)	8											113.0	105.0	108.0					8																	65527670		2203	4300	6503	65690224	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.970C>A	8.37:g.65527670G>T	ENSP00000310721:p.Arg324Ser		65690224	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	G	4.628	0.116706	0.08881	.	.	ENSG00000172817	ENST00000310193	T	0.69040	-0.37	5.93	4.11	0.48088	.	0.617158	0.19131	N	0.121927	T	0.38054	0.1026	N	0.03891	-0.335	0.24453	N	0.994473	B	0.19817	0.039	B	0.20955	0.032	T	0.21381	-1.0247	10	0.06099	T	0.92	-19.8849	10.8751	0.46906	0.0672:0.0:0.7986:0.1342	.	324	O75881	CP7B1_HUMAN	S	324	ENSP00000310721:R324S	ENSP00000310721:R324S	R	-	1	0	CYP7B1	65690224	1.000000	0.71417	0.931000	0.37212	0.997000	0.91878	2.186000	0.42593	0.815000	0.34398	0.655000	0.94253	CGT		0.468	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		
TP53	7157	broad.mit.edu	37	17	7579315	7579315	+	Frame_Shift_Del	DEL	G	G	-			TCGA-25-1320-01A-01W-0492-08	TCGA-25-1320-10A-01W-0492-08	G	G	-	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	ae2cb5e3-cd36-4d7c-97dc-2f72a08dddb1	5a731a5f-410b-4139-b43c-043de422be40	g.chr17:7579315delG	ENST00000269305.4	-	4	561	c.372delC	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C124fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C124fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.C124fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	124	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACTGACCGTGCAAGTCACAG	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	21	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Nonsense(3)|Deletion - In frame(1)|Insertion - Frameshift(1)	lung(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|ovary(1)	17											66.0	61.0	63.0					17																	7579315		2203	4300	6503	7520040	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.372delC	17.37:g.7579315delG	ENSP00000269305:p.Cys124fs		7520040	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
