#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TranscriptID	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
PTPN20B	26095	broad.mit.edu	37	10	48771337	48771338	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr10:48771337_48771338insT	ENST00000374233.3	-	6	636_637	c.560_561insA	c.(559-561)aatfs	p.N187fs	PTPN20B_ENST00000514592.1_Intron|PTPN20B_ENST00000514491.1_Frame_Shift_Ins_p.N178fs|PTPN20B_ENST00000509753.1_Frame_Shift_Ins_p.N159fs|PTPN20B_ENST00000374240.3_Frame_Shift_Ins_p.N187fs|PTPN20B_ENST00000507417.1_Frame_Shift_Ins_p.N159fs|PTPN20B_ENST00000512924.1_Intron|PTPN20B_ENST00000515532.1_Frame_Shift_Ins_p.N187fs|PTPN20B_ENST00000395662.3_Frame_Shift_Ins_p.N106fs|PTPN20B_ENST00000502266.1_Frame_Shift_Ins_p.N106fs|PTPN20B_ENST00000395668.1_Frame_Shift_Ins_p.N106fs|PTPN20B_ENST00000511387.1_Intron|PTPN20B_ENST00000509631.1_Frame_Shift_Ins_p.N106fs|PTPN20B_ENST00000510840.1_Intron|PTPN20B_ENST00000512321.1_Intron|PTPN20B_ENST00000331650.4_Frame_Shift_Ins_p.N106fs|PTPN20B_ENST00000509230.1_Frame_Shift_Ins_p.N178fs|PTPN20B_ENST00000395660.2_Frame_Shift_Ins_p.N159fs|PTPN20B_ENST00000395661.3_Intron|PTPN20B_ENST00000509544.1_Intron|PTPN20B_ENST00000395674.2_Intron|PTPN20B_ENST00000374235.2_Intron			Q4JDL3	PTN20_HUMAN	protein tyrosine phosphatase, non-receptor type 20B	187	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.					cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.N187fs*2(1)		large_intestine(1)|lung(1)	2				Kidney(211;0.201)		CTCGGTATCTATTTTTTTCTCT	0.307																																					p.N178fs	Esophageal Squamous(163;2397 2588 11533 14526)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.534_535insA	10						.																																			48391344	SO:0001589	frameshift_variant	26095	exon6				CCDS73105.1, CCDS73106.1, CCDS73107.1, CCDS73108.1, CCDS73109.1, CCDS73110.1, CCDS73111.1, CCDS73114.1, CCDS73115.1, CCDS73116.1	10q11.22	2011-06-09			ENSG00000183675			"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	23423	protein-coding gene	gene with protein product		610630, 610631				15790311	Standard	NM_001042365		Approved	bA42B19.1, DKFZP566K0524	uc001jdc.1	Q4JDL3	OTTHUMG00000018151	ENST00000374233.3:c.561dupA	10.37:g.48771344_48771344dupT	ENSP00000363350:p.Asn187fs	Somatic		Capture	Illumina HiSeq	Phase_I	48391343	NM_001042393	A6NNH8|B7ZKV3|Q4JDG6|Q4JDK1|Q4JDK5|Q4JDK6|Q4JDK8|Q4JDK9|Q4JDL0|Q4JDL1|Q4JDL4|Q4JDL5|Q4JDL6|Q4JDL7|Q4JDL8|Q5RJ33|Q5T1G3	Frame_Shift_Ins	INS	ENST00000374233.3	37	CCDS41514.1																																																																																				0.307	PTPN20B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358674.1	NM_015605	
GPAM	57678	broad.mit.edu	37	10	113921449	113921449	+	Silent	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr10:113921449G>A	ENST00000348367.4	-	15	1667	c.1470C>T	c.(1468-1470)tgC>tgT	p.C490C	GPAM_ENST00000423155.1_Silent_p.C490C|GPAM_ENST00000369425.1_Silent_p.C490C			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	490					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.C490C(2)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AGAGGAGCAGGCAAGCCACAA	0.453																																					p.C490C	Ovarian(161;1017 2606 18293 52943)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1470T	10						.						97.0	82.0	87.0					10																	113921449		2203	4300	6503	113911439	SO:0001819	synonymous_variant	57678	exon15			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1470C>T	10.37:g.113921449G>A		Somatic		Capture	Illumina HiSeq	Phase_I	113911439	NM_020918	Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	CCDS7570.1																																																																																				0.453	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918	
TCF7L2	6934	broad.mit.edu	37	10	114925334	114925334	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr10:114925334G>A	ENST00000355995.4	+	15	1970	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	TCF7L2_ENST00000355717.4_Missense_Mutation_p.A471T|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A158T|TCF7L2_ENST00000538897.1_Missense_Mutation_p.A464T|TCF7L2_ENST00000545257.1_Missense_Mutation_p.R488H|TCF7L2_ENST00000542695.1_Missense_Mutation_p.R204H|TCF7L2_ENST00000543371.1_Missense_Mutation_p.R471H|TCF7L2_ENST00000369397.4_Missense_Mutation_p.R465H|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000536810.1_Missense_Mutation_p.R471H|TCF7L2_ENST00000352065.5_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	488	Promoter-specific activation domain.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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 type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A471T(1)|p.R465H(1)|p.R471H(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAGTGCGTTCGCTACATACAA	0.532			T	VTI1A	colorectal																																p.A437T			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1309A	10						.						102.0	109.0	106.0					10																	114925334		2203	4300	6503	114915324	SO:0001583	missense	6934	exon13			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1463G>A	10.37:g.114925334G>A	ENSP00000348274:p.Arg488His	Somatic		Capture	Illumina HiSeq	Phase_I	114915324	NM_001146284	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.176539|5.176539	0.94846|0.94846	.|.	.|.	ENSG00000148737|ENSG00000148737	ENST00000355717;ENST00000538897;ENST00000369389|ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000369397;ENST00000542695;ENST00000277945	D;D;D|D;D;D;D;D;D;D	0.99311|0.99298	-5.73;-5.62;-5.68|-5.16;-5.17;-5.17;-5.15;-5.16;-5.2;-5.71	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.99266|0.99266	0.9744|0.9744	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	D;P;P;P;P;P;P|D;D;D;D;D;B;P	0.54397|0.89917	0.966;0.772;0.772;0.858;0.772;0.951;0.854|0.972;1.0;0.965;0.994;0.993;0.17;0.834	B;B;B;B;B;B;B|P;D;P;P;P;B;B	0.41571|0.85130	0.36;0.078;0.122;0.122;0.078;0.32;0.162|0.667;0.997;0.466;0.579;0.694;0.027;0.255	D|D	0.99845|0.99845	1.1065|1.1065	9|10	0.21540|0.45353	T|T	0.41|0.12	-33.6256|-33.6256	19.3381|19.3381	0.94329|0.94329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	363;424;390;447;441;471;437|488;359;403;448;448;471;465	B4DWD5;B4DRJ8;C6ZRK2;B9X074;C6ZRK1;F8W7T5;Q9NQB0-10|Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ8;C6ZRK5;Q9NQB0-7;Q6FHW4	.;.;.;.;.;.;.|TF7L2_HUMAN;.;.;.;.;.;.	T|H	471;464;158|488;488;471;471;465;204;188	ENSP00000347949:A471T;ENSP00000446172:A464T;ENSP00000358396:A158T|ENSP00000348274:R488H;ENSP00000440547:R488H;ENSP00000444972:R471H;ENSP00000446238:R471H;ENSP00000358404:R465H;ENSP00000443883:R204H;ENSP00000277945:R188H	ENSP00000347949:A471T|ENSP00000277945:R188H	A|R	+|+	1|2	0|0	TCF7L2|TCF7L2	114915324|114915324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.398000|6.398000	0.73244|0.73244	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.532	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
AFAP1L2	84632	broad.mit.edu	37	10	116064635	116064635	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr10:116064635C>G	ENST00000304129.4	-	11	1156	c.1127G>C	c.(1126-1128)aGg>aCg	p.R376T	AFAP1L2_ENST00000491814.1_5'Flank|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.R429T|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.R376T			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	376	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)	p.R376T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTGATTGTCCCTGACAGAGCA	0.637																																					p.R376T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1127C	10						.						76.0	67.0	70.0					10																	116064635		2202	4299	6501	116054625	SO:0001583	missense	84632	exon11			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1127G>C	10.37:g.116064635C>G	ENSP00000303042:p.Arg376Thr	Somatic		Capture	Illumina HiSeq	Phase_I	116054625	NM_001001936	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195129	0.58017	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.28255	1.62;1.62;1.62	5.23	3.18	0.36537	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.127010	0.56097	D	0.000025	T	0.26882	0.0658	L	0.42245	1.32	0.39054	D	0.960395	P;P;B;P;P	0.42161	0.547;0.772;0.249;0.546;0.772	B;B;B;B;B	0.43701	0.158;0.428;0.363;0.208;0.312	T	0.07328	-1.0778	10	0.72032	D	0.01	-20.9601	5.3393	0.15974	0.0:0.2653:0.0:0.7347	.	429;430;404;376;376	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	T	376;376;403;429	ENSP00000358276:R376T;ENSP00000303042:R376T;ENSP00000444511:R429T	ENSP00000303042:R376T	R	-	2	0	AFAP1L2	116054625	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	3.093000	0.50217	0.478000	0.27488	0.462000	0.41574	AGG		0.637	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550	
RAB11FIP2	22841	broad.mit.edu	37	10	119800045	119800045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr10:119800045G>A	ENST00000355624.3	-	2	824	c.385C>T	c.(385-387)Cga>Tga	p.R129*	RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.R129*|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	129					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.R129*(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTTTTGATTCGTTTTCCTTGT	0.343																																					p.R129X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C385T	10						.						83.0	65.0	71.0					10																	119800045		2203	4299	6502	119790035	SO:0001587	stop_gained	22841	exon2			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.385C>T	10.37:g.119800045G>A	ENSP00000347839:p.Arg129*	Somatic		Capture	Illumina HiSeq	Phase_I	119790035	NM_014904	A6NEI4|Q3I768|Q9Y2F0	Nonsense_Mutation	SNP	ENST00000355624.3	37	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464802	0.84425	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	.	.	.	5.39	4.26	0.50523	.	0.246532	0.46758	D	0.000279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-12.7447	12.6519	0.56766	0.0:0.0:0.1446:0.8554	.	.	.	.	X	129	.	ENSP00000347839:R129X	R	-	1	2	RAB11FIP2	119790035	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.235000	0.58666	0.995000	0.38917	-0.262000	0.10625	CGA		0.343	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904	
ITIH2	3698	broad.mit.edu	37	10	7786834	7786834	+	Missense_Mutation	SNP	G	G	A	rs372514815		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr10:7786834G>A	ENST00000358415.4	+	19	2655	c.2489G>A	c.(2488-2490)cGt>cAt	p.R830H	ITIH2_ENST00000379587.4_Missense_Mutation_p.R819H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	830					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R830H(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTACTTCATCGTGTTTGGAAG	0.428																																					p.R830H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2489A	10						.	G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	155.0	143.0	147.0		2489	4.9	1.0	10		147	0,8600		0,0,4300	no	missense	ITIH2	NM_002216.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	830/947	7786834	2,13004	2203	4300	6503	7826840	SO:0001583	missense	3698	exon19			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2489G>A	10.37:g.7786834G>A	ENSP00000351190:p.Arg830His	Somatic		Capture	Illumina HiSeq	Phase_I	7826840	NM_002216	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350819	0.61183	4.54E-4	0.0	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.12774	2.65;2.65	5.79	4.89	0.63831	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.113338	0.64402	D	0.000008	T	0.21590	0.0520	M	0.74881	2.28	0.80722	D	1	B	0.33238	0.403	B	0.35859	0.212	T	0.01858	-1.1259	10	0.46703	T	0.11	-6.2022	14.9099	0.70749	0.0689:0.0:0.9311:0.0	.	830	P19823	ITIH2_HUMAN	H	830;819	ENSP00000351190:R830H;ENSP00000368906:R819H	ENSP00000351190:R830H	R	+	2	0	ITIH2	7826840	1.000000	0.71417	0.986000	0.45419	0.807000	0.45602	3.825000	0.55730	1.460000	0.47911	0.591000	0.81541	CGT		0.428	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
FRMPD2	143162	broad.mit.edu	37	10	49450329	49450329	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr10:49450329G>A	ENST00000374201.3	-	5	744	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	FRMPD2_ENST00000305531.3_Missense_Mutation_p.R124W|FRMPD2_ENST00000407470.4_Missense_Mutation_p.R117W	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	148	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.R148W(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AACGTGCACCGCCTGTGAGGC	0.607																																					p.R148W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C442T	10						.						84.0	83.0	83.0					10																	49450329		2203	4300	6503	49120335	SO:0001583	missense	143162	exon5			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.442C>T	10.37:g.49450329G>A	ENSP00000363317:p.Arg148Trp	Somatic		Capture	Illumina HiSeq	Phase_I	49120335	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543344	0.45280	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.77489	-1.1;1.41;1.41	5.36	4.45	0.53987	KIND (2);	.	.	.	.	D	0.87289	0.6140	M	0.80422	2.495	0.34271	D	0.681044	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.91525	0.5237	9	0.87932	D	0	.	11.4123	0.49933	0.0:0.0:0.8192:0.1808	.	124;148;117	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	W	148;124;117	ENSP00000363317:R148W;ENSP00000307079:R124W;ENSP00000384339:R117W	ENSP00000307079:R124W	R	-	1	2	FRMPD2	49120335	0.960000	0.32886	0.795000	0.32087	0.021000	0.10359	1.594000	0.36697	1.246000	0.43901	0.655000	0.94253	CGG		0.607	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
SFXN4	119559	broad.mit.edu	37	10	120920571	120920571	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr10:120920571C>G	ENST00000355697.2	-	4	294	c.275G>C	c.(274-276)aGt>aCt	p.S92T	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Intron	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	92					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.S92T(1)		central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		ACTTACAAGACTCCGCTTCCA	0.383																																					p.S92T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G275C	10						.						130.0	135.0	133.0					10																	120920571		2203	4300	6503	120910561	SO:0001583	missense	119559	exon4				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.275G>C	10.37:g.120920571C>G	ENSP00000347924:p.Ser92Thr	Somatic		Capture	Illumina HiSeq	Phase_I	120910561	NM_213649	Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565549	0.27915	.	.	ENSG00000183605	ENST00000355697	T	0.28895	1.59	5.09	5.09	0.68999	.	0.144113	0.46758	D	0.000266	T	0.34337	0.0894	M	0.66939	2.045	0.80722	D	1	P	0.39535	0.677	B	0.40199	0.322	T	0.06463	-1.0825	10	0.27785	T	0.31	-17.7392	13.8853	0.63704	0.0:1.0:0.0:0.0	.	92	Q6P4A7	SFXN4_HUMAN	T	92	ENSP00000347924:S92T	ENSP00000347924:S92T	S	-	2	0	SFXN4	120910561	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	3.495000	0.53280	2.646000	0.89796	0.655000	0.94253	AGT		0.383	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406	
OR51A2	401667	broad.mit.edu	37	11	4976153	4976153	+	Missense_Mutation	SNP	C	C	T	rs61744535		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr11:4976153C>T	ENST00000380371.1	-	1	790	c.791G>A	c.(790-792)cGc>cAc	p.R264H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R264H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGGCAAAGCGGTGGACAAC	0.453																																					p.R264H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G791A	11						.						97.0	77.0	84.0					11																	4976153		2088	3861	5949	4932729	SO:0001583	missense	401667	exon1			AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.791G>A	11.37:g.4976153C>T	ENSP00000369729:p.Arg264His	Somatic		Capture	Illumina HiSeq	Phase_I	4932729	NM_001004748		Missense_Mutation	SNP	ENST00000380371.1	37	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	11.66	1.703728	0.30232	.	.	ENSG00000205496	ENST00000380371	T	0.37235	1.21	3.26	0.192	0.15134	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42720	0.1215	M	0.88377	2.95	0.09310	N	1	P	0.35124	0.485	B	0.36418	0.224	T	0.42120	-0.9470	9	0.72032	D	0.01	.	6.5172	0.22254	0.0:0.6676:0.0:0.3324	.	264	Q8NGJ7	O51A2_HUMAN	H	264	ENSP00000369729:R264H	ENSP00000369729:R264H	R	-	2	0	OR51A2	4932729	0.005000	0.15991	0.001000	0.08648	0.046000	0.14306	1.948000	0.40303	-0.053000	0.13289	0.503000	0.49774	CGC		0.453	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748	
OR4C13	283092	broad.mit.edu	37	11	49974226	49974226	+	Silent	SNP	C	C	G			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr11:49974226C>G	ENST00000555099.1	+	1	284	c.252C>G	c.(250-252)ctC>ctG	p.L84L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L84L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CAGATTCACTCTATGAAAACA	0.408																																					p.L84L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C252G	11						.						168.0	161.0	163.0					11																	49974226		2201	4296	6497	49930802	SO:0001819	synonymous_variant	283092	exon1			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.252C>G	11.37:g.49974226C>G		Somatic		Capture	Illumina HiSeq	Phase_I	49930802	NM_001001955	A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	CCDS31495.1																																																																																				0.408	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955	
OR8H2	390151	broad.mit.edu	37	11	55872620	55872620	+	Silent	SNP	G	G	C	rs61745328	byFrequency	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr11:55872620G>C	ENST00000313503.1	+	1	102	c.102G>C	c.(100-102)ctG>ctC	p.L34L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L34L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TATTTCTCCTGATATACCTAA	0.428										HNSCC(53;0.14)			g|||	37	0.00738818	0.0242	0.0058	5008	,	,		19540	0.0		0.001	False		,,,				2504	0.0				p.L34L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G102C	11						.						257.0	246.0	250.0					11																	55872620		2201	4296	6497	55629196	SO:0001819	synonymous_variant	390151	exon1			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.102G>C	11.37:g.55872620G>C		Somatic		Capture	Illumina HiSeq	Phase_I	55629196	NM_001005200	Q6IFC1	Silent	SNP	ENST00000313503.1	37	CCDS31518.1																																																																																				0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200	
ANO1	55107	broad.mit.edu	37	11	69934097	69934097	+	Silent	SNP	G	G	A	rs557246681	byFrequency	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr11:69934097G>A	ENST00000355303.5	+	2	653	c.348G>A	c.(346-348)ccG>ccA	p.P116P	ANO1_ENST00000538023.1_Silent_p.P116P|ANO1_ENST00000530676.1_De_novo_Start_InFrame|ANO1_ENST00000398543.2_De_novo_Start_InFrame|ANO1_ENST00000316296.5_Silent_p.P88P	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	116					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.P116P(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GGGAGCCCCCGATGGACTACC	0.687																																					p.P116P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G348A	11						.						13.0	16.0	15.0					11																	69934097		1942	4138	6080	69611745	SO:0001819	synonymous_variant	55107	exon2			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.348G>A	11.37:g.69934097G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69611745	NM_018043	A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	CCDS44663.1																																																																																				0.687	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043	
JRKL	8690	broad.mit.edu	37	11	96124616	96124616	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr11:96124616A>C	ENST00000332349.4	+	2	1050	c.803A>C	c.(802-804)aAa>aCa	p.K268T	JRKL_ENST00000458427.1_Missense_Mutation_p.K268T|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank|CCDC82_ENST00000525786.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	268	DDE.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K268T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		tggtttgataaaatttttgtg	0.393																																					p.K268T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A803C	11						.						30.0	25.0	27.0					11																	96124616		1868	3530	5398	95764264	SO:0001583	missense	8690	exon1			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.803A>C	11.37:g.96124616A>C	ENSP00000333350:p.Lys268Thr	Somatic		Capture	Illumina HiSeq	Phase_I	95764264	NM_003772	A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.054924	0.55325	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.46451	0.87;0.87	4.79	4.79	0.61399	.	0.000000	0.43260	D	0.000583	T	0.51193	0.1660	M	0.69823	2.125	0.34018	D	0.652274	D	0.53312	0.959	P	0.53313	0.723	T	0.62863	-0.6764	10	0.24483	T	0.36	-13.1863	11.0071	0.47641	1.0:0.0:0.0:0.0	.	268	Q9Y4A0	JERKL_HUMAN	T	268	ENSP00000333350:K268T;ENSP00000389989:K268T	ENSP00000333350:K268T	K	+	2	0	JRKL	95764264	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	4.690000	0.61731	1.912000	0.55364	0.379000	0.24179	AAA		0.393	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772	
PLEKHA5	54477	broad.mit.edu	37	12	19511302	19511302	+	Silent	SNP	C	C	T	rs571301437		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr12:19511302C>T	ENST00000299275.6	+	21	2787	c.2781C>T	c.(2779-2781)atC>atT	p.I927I	PLEKHA5_ENST00000543806.1_Silent_p.I909I|PLEKHA5_ENST00000359180.3_Silent_p.I871I|PLEKHA5_ENST00000539256.1_Silent_p.I685I|PLEKHA5_ENST00000429027.2_Silent_p.I1093I|PLEKHA5_ENST00000355397.3_Silent_p.I985I|PLEKHA5_ENST00000538714.1_Silent_p.I985I|PLEKHA5_ENST00000317589.4_Silent_p.I990I|PLEKHA5_ENST00000424268.1_Silent_p.I916I	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	927					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.I1088I(1)|p.I927I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TAAATGTTATCGGTGCTTCAG	0.383																																					p.I927I	Pancreas(196;329 2193 11246 14234 19524)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2781T	12						.						91.0	78.0	82.0					12																	19511302		2203	4300	6503	19402569	SO:0001819	synonymous_variant	54477	exon21			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2781C>T	12.37:g.19511302C>T		Somatic		Capture	Illumina HiSeq	Phase_I	19402569	NM_019012	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	ENST00000299275.6	37	CCDS8682.1																																																																																				0.383	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012	
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12D	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0 	.	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	c.G35A	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	Somatic		Capture	Illumina HiSeq	Phase_I	25289551	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
AQP2	359	broad.mit.edu	37	12	50348467	50348467	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr12:50348467G>A	ENST00000199280.3	+	3	665	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	194			V -> I. {ECO:0000269|PubMed:12191971}.		actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.V194I(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						TCCAGCTGTCGTCACTGGCAA	0.542																																					p.V194I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580A	12	GRCh37	CM024087	AQP2	M		.						138.0	123.0	128.0					12																	50348467		2203	4300	6503	48634734	SO:0001583	missense	359	exon3				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.580G>A	12.37:g.50348467G>A	ENSP00000199280:p.Val194Ile	Somatic		Capture	Illumina HiSeq	Phase_I	48634734	NM_000486	Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	g	2.406	-0.336499	0.05278	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.85955	-2.05;-2.05	5.3	-1.59	0.08453	Aquaporin-like (2);	0.535419	0.17182	N	0.183859	T	0.60702	0.2289	N	0.04162	-0.26	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.52472	-0.8571	10	0.02654	T	1	-29.0209	10.1557	0.42820	0.5996:0.0:0.4004:0.0	.	194	P41181	AQP2_HUMAN	I	194;236	ENSP00000199280:V194I;ENSP00000450022:V236I	ENSP00000199280:V194I	V	+	1	0	AQP2	48634734	0.000000	0.05858	0.034000	0.17996	0.815000	0.46073	-1.002000	0.03686	-0.240000	0.09696	-0.265000	0.10407	GTC		0.542	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486	
MYO16	23026	broad.mit.edu	37	13	109779875	109779875	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr13:109779875C>T	ENST00000357550.2	+	30	4003	c.3962C>T	c.(3961-3963)gCg>gTg	p.A1321V	MYO16_ENST00000356711.2_Missense_Mutation_p.A1321V|MYO16_ENST00000457511.2_Missense_Mutation_p.A833V	NM_001198950.1	NP_001185879.1			myosin XVI									p.A1321V(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCCTCTCCGCGGCCAGGGAA	0.682																																					p.A1343V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4028T	13						.						18.0	21.0	20.0					13																	109779875		2199	4290	6489	108577876	SO:0001583	missense	23026	exon31				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3962C>T	13.37:g.109779875C>T	ENSP00000350160:p.Ala1321Val	Somatic		Capture	Illumina HiSeq	Phase_I	108577876	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	8.985	0.976293	0.18736	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.45276	0.9;0.9;0.9	5.5	3.79	0.43588	.	0.000000	0.40385	U	0.001119	T	0.40222	0.1108	M	0.65975	2.015	0.36537	D	0.871075	B;B	0.26081	0.141;0.026	B;B	0.24848	0.056;0.008	T	0.39663	-0.9603	9	.	.	.	.	11.6152	0.51086	0.0:0.8562:0.0:0.1438	.	833;1321	F8W883;Q9Y6X6	.;MYO16_HUMAN	V	1321;1321;833	ENSP00000349145:A1321V;ENSP00000350160:A1321V;ENSP00000401633:A833V	.	A	+	2	0	MYO16	108577876	0.955000	0.32602	0.003000	0.11579	0.021000	0.10359	1.825000	0.39081	0.703000	0.31848	-0.244000	0.11960	GCG		0.682	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
GPX2	2877	broad.mit.edu	37	14	65406323	65406323	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr14:65406323delC	ENST00000389614.5	-	2	542	c.456delG	c.(454-456)tggfs	p.W152fs	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	152					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)	p.W152fs*1(1)		large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	TCTCAAAGTTCCAGGCCACAT	0.562																																					p.W152X												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.456delG	14						.						100.0	98.0	99.0					14																	65406323		1958	4150	6108	64476076	SO:0001589	frameshift_variant	2877	exon2				CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.456delG	14.37:g.65406323delC	ENSP00000374265:p.Trp152fs	Somatic		Capture	Illumina HiSeq	Phase_I	64476076	NM_002083	Q6PJ52|Q8WWI7|Q9NRP9	Frame_Shift_Del	DEL	ENST00000389614.5	37	CCDS41964.1																																																																																				0.562	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1		
FAM181A	90050	broad.mit.edu	37	14	94394771	94394771	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr14:94394771G>A	ENST00000267594.5	+	3	633	c.326G>A	c.(325-327)cGc>cAc	p.R109H	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000556222.1_Missense_Mutation_p.R47H|FAM181A_ENST00000557000.2_Missense_Mutation_p.R47H|FAM181A_ENST00000557719.1_Missense_Mutation_p.R47H	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	109								p.R109H(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CAGCTCAAGCGCTTCTCCCAG	0.647																																					p.R109H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G326A	14						.						44.0	42.0	42.0					14																	94394771		2203	4300	6503	93464524	SO:0001583	missense	90050	exon3			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.326G>A	14.37:g.94394771G>A	ENSP00000267594:p.Arg109His	Somatic		Capture	Illumina HiSeq	Phase_I	93464524	NM_138344	B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068559	0.93950	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	4.74	4.74	0.60224	.	0.000000	0.56097	D	0.000021	T	0.70859	0.3272	M	0.64404	1.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.75048	-0.3455	10	0.87932	D	0	-3.5884	17.7425	0.88411	0.0:0.0:1.0:0.0	.	109	Q8N9Y4	F181A_HUMAN	H	47;109;47;47;98	ENSP00000451802:R47H;ENSP00000267594:R109H;ENSP00000451678:R47H;ENSP00000452393:R47H	ENSP00000267594:R109H	R	+	2	0	FAM181A	93464524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.841000	0.99482	2.196000	0.70406	0.561000	0.74099	CGC		0.647	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344	
ATG2B	55102	broad.mit.edu	37	14	96757161	96757161	+	Silent	SNP	T	T	C			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr14:96757161T>C	ENST00000359933.4	-	39	6584	c.5691A>G	c.(5689-5691)ctA>ctG	p.L1897L	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1897					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.L1897L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTAATTGTACTAGTGAATGCA	0.348																																					p.L1897L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A5691G	14						.						104.0	110.0	108.0					14																	96757161		2203	4300	6503	95826914	SO:0001819	synonymous_variant	55102	exon39			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5691A>G	14.37:g.96757161T>C		Somatic		Capture	Illumina HiSeq	Phase_I	95826914	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	CCDS9944.2																																																																																				0.348	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
AHNAK2	113146	broad.mit.edu	37	14	105417780	105417780	+	Silent	SNP	C	C	T	rs192698964	byFrequency	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr14:105417780C>T	ENST00000333244.5	-	7	4127	c.4008G>A	c.(4006-4008)ccG>ccA	p.P1336P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1336						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P1336P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCGAACGACGGCATCTTGA	0.612													.|||	72	0.014377	0.003	0.013	5008	,	,		14347	0.0089		0.0209	False		,,,				2504	0.0297				p.P1336P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4008A	14						.	G		7,3673		2,3,1835	154.0	133.0	140.0		4008	-8.6	0.5	14		140	7,6617		0,7,3305	no	coding-synonymous	AHNAK2	NM_138420.2		2,10,5140	TT,TC,CC		0.1057,0.1902,0.1359		1336/5796	105417780	14,10290	1840	3312	5152	104488825	SO:0001819	synonymous_variant	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4008G>A	14.37:g.105417780C>T		Somatic		Capture	Illumina HiSeq	Phase_I	104488825	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
POTEB2	100287399	broad.mit.edu	37	15	21040842	21040842	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr15:21040842C>A	ENST00000454856.4	-	11	1545	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	MIR3118-4_ENST00000584700.1_RNA	NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	505								p.E505*(1)									TGTTTTGTTTCATCTAGTTCC	0.348																																					p.E542X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1624T	15						.																																			19305394	SO:0001587	stop_gained	339010	exon11				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.1513G>T	15.37:g.21040842C>A	ENSP00000456953:p.Glu505*	Somatic		Capture	Illumina HiSeq	Phase_I	19305394	NM_207355		Nonsense_Mutation	SNP	ENST00000454856.4	37	CCDS59248.1																																																																																				0.348	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
COMMD4	54939	broad.mit.edu	37	15	75632207	75632207	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr15:75632207G>A	ENST00000267935.8	+	7	746	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	COMMD4_ENST00000338995.6_Intron|COMMD4_ENST00000564815.1_Missense_Mutation_p.V161I|COMMD4_ENST00000562789.1_Intron|COMMD4_ENST00000567195.1_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	183	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.					cytoplasm (GO:0005737)		p.V183I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CAAGTTCCAGGTCCTCCTGGC	0.647																																					p.V183I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547A	15						.						60.0	60.0	60.0					15																	75632207		2197	4294	6491	73419260	SO:0001583	missense	54939	exon7			AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.547G>A	15.37:g.75632207G>A	ENSP00000267935:p.Val183Ile	Somatic		Capture	Illumina HiSeq	Phase_I	73419260	NM_017828	B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.568247	0.86439	.	.	ENSG00000140365	ENST00000267935	T	0.10573	2.86	4.95	4.04	0.47022	COMM domain (1);	0.061976	0.64402	N	0.000005	T	0.24470	0.0593	M	0.80028	2.48	0.80722	D	1	P	0.51057	0.941	P	0.51615	0.675	T	0.02632	-1.1131	10	0.40728	T	0.16	.	12.5972	0.56476	0.0809:0.0:0.9191:0.0	.	183	Q9H0A8	COMD4_HUMAN	I	183	ENSP00000267935:V183I	ENSP00000267935:V183I	V	+	1	0	COMMD4	73419260	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.841000	0.69409	1.093000	0.41377	-0.119000	0.15052	GTC		0.647	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828	
KNOP1	400506	broad.mit.edu	37	16	19722723	19722724	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr16:19722723_19722724insT	ENST00000219837.7	-	3	1035_1036	c.957_958insA	c.(955-960)aaaggcfs	p.G320fs	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'UTR	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	320	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G320fs*5(1)|p.K319N(1)									TCCATGTTGCCTTTTTTTTCCA	0.564																																					p.G320fs												.	.	2	Substitution - Missense(1)|Insertion - Frameshift(1)	large_intestine(1)|lung(1)	c.958_959insA	16						.																																			19630225	SO:0001589	frameshift_variant	400506	exon3			BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.958dupA	16.37:g.19722731_19722731dupT	ENSP00000219837:p.Gly320fs	Somatic		Capture	Illumina HiSeq	Phase_I	19630224	NM_001012991	O43328|Q5FWF3	Frame_Shift_Ins	INS	ENST00000219837.7	37	CCDS42127.1																																																																																				0.564	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991	
SYT17	51760	broad.mit.edu	37	16	19195129	19195129	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr16:19195129G>A	ENST00000355377.2	+	5	1009	c.611G>A	c.(610-612)cGc>cAc	p.R204H	SYT17_ENST00000562711.2_Missense_Mutation_p.R200H|SYT17_ENST00000568115.1_Missense_Mutation_p.R143H|SYT17_ENST00000562034.1_Missense_Mutation_p.R143H	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	204	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.R204H(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTCACCGTGCGCGTGATCGAG	0.612																																					p.R204H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G611A	16						.						126.0	111.0	116.0					16																	19195129		2197	4300	6497	19102630	SO:0001583	missense	51760	exon5				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.611G>A	16.37:g.19195129G>A	ENSP00000347538:p.Arg204His	Somatic		Capture	Illumina HiSeq	Phase_I	19102630	NM_016524	O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.084882	0.76642	.	.	ENSG00000103528	ENST00000355377	T	0.69306	-0.39	5.38	5.38	0.77491	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000017	T	0.58395	0.2119	N	0.26162	0.8	0.80722	D	1	B;B	0.22211	0.066;0.036	B;B	0.23419	0.046;0.046	T	0.54970	-0.8213	10	0.48119	T	0.1	.	19.1275	0.93391	0.0:0.0:1.0:0.0	.	204;143	Q9BSW7;B4DJB2	SYT17_HUMAN;.	H	204	ENSP00000347538:R204H	ENSP00000347538:R204H	R	+	2	0	SYT17	19102630	1.000000	0.71417	0.529000	0.27951	0.989000	0.77384	7.731000	0.84895	2.504000	0.84457	0.457000	0.33378	CGC		0.612	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524	
SLFN11	91607	broad.mit.edu	37	17	33689795	33689795	+	Silent	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr17:33689795G>A	ENST00000394566.1	-	4	1304	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	SLFN11_ENST00000308377.4_Silent_p.T344T	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	344					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.T344T(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCATTTCTCGGTTGTCAGGC	0.488																																					p.T344T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1032T	17						.						94.0	84.0	87.0					17																	33689795		2203	4300	6503	30713908	SO:0001819	synonymous_variant	91607	exon3			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1032C>T	17.37:g.33689795G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30713908	NM_001104589	E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	CCDS11294.1																																																																																				0.488	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	T	rs55863639		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr17:7579312C>T	ENST00000269305.4	-	4	564	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGCAACTGACCGTGCAAGTCA	0.537		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)																											p.T125T	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,lung,NS,Unknown,+1	.	66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	c.G375A	17	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	.						66.0	61.0	63.0					17																	7579312		2203	4300	6503	7520037	SO:0001630	splice_region_variant	7157	exon4	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.375+1G>A	17.37:g.7579312C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7520037	NM_001126114	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	Silent	SNP	ENST00000269305.4	37	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent
LRRC37A3	374819	broad.mit.edu	37	17	62855636	62855636	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr17:62855636G>A	ENST00000584306.1	-	11	5158	c.4628C>T	c.(4627-4629)aCg>aTg	p.T1543M	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.T520M|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.T581M|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.T661M|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.T1543M	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1543						integral component of membrane (GO:0016021)		p.T1543M(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCATTGGTCCGTATCCCATTC	0.498																																					p.T1543M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4628T	17						.						153.0	159.0	157.0					17																	62855636		2201	4289	6490	60286098	SO:0001583	missense	374819	exon11			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4628C>T	17.37:g.62855636G>A	ENSP00000464535:p.Thr1543Met	Somatic		Capture	Illumina HiSeq	Phase_I	60286098	NM_199340	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.576671	0.28092	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.56275	0.47;0.47;0.47	2.39	1.34	0.21922	.	.	.	.	.	T	0.45756	0.1358	M	0.73962	2.25	0.09310	N	1	P;P	0.43885	0.705;0.82	B;B	0.34301	0.179;0.109	T	0.40496	-0.9560	9	0.66056	D	0.02	.	6.9041	0.24299	0.0:0.2901:0.7099:0.0	.	661;1543	B4DG20;O60309	.;L37A3_HUMAN	M	624;581;520;1543	ENSP00000383674:T581M;ENSP00000335617:T520M;ENSP00000325713:T1543M	ENSP00000325713:T1543M	T	-	2	0	LRRC37A3	60286098	0.012000	0.17670	0.206000	0.23566	0.026000	0.11368	1.753000	0.38359	0.305000	0.22832	0.184000	0.17185	ACG		0.498	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340	
DDX49	54555	broad.mit.edu	37	19	19038598	19038598	+	Missense_Mutation	SNP	G	G	A	rs73923185	byFrequency	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr19:19038598G>A	ENST00000247003.4	+	11	1193	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	DDX49_ENST00000599156.1_3'UTR|DDX49_ENST00000438170.2_3'UTR|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	376	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.V376M(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GGAGTTCTCCGTGGAAGAGGC	0.582													G|||	62	0.0123802	0.0461	0.0014	5008	,	,		15295	0.0		0.0	False		,,,				2504	0.0				p.V376M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1126A	19						.	G	MET/VAL	175,4231	113.8+/-151.8	3,169,2031	70.0	62.0	65.0		1126	3.3	0.7	19	dbSNP_130	65	0,8600		0,0,4300	yes	missense	DDX49	NM_019070.4	21	3,169,6331	AA,AG,GG		0.0,3.9719,1.3455	benign	376/484	19038598	175,12831	2203	4300	6503	18899598	SO:0001583	missense	54555	exon11				CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"""DEAD-boxes"""	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.1126G>A	19.37:g.19038598G>A	ENSP00000247003:p.Val376Met	Somatic		Capture	Illumina HiSeq	Phase_I	18899598	NM_019070	E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	ENST00000247003.4	37	CCDS12390.1	20	0.009157509157509158	20	0.04065040650406504	0	0.0	0	0.0	0	0.0	G	10.65	1.410142	0.25465	0.039719	0.0	ENSG00000105671	ENST00000247003	T	0.23552	1.9	4.31	3.27	0.37495	Helicase, C-terminal (1);	0.068397	0.64402	D	0.000016	T	0.04952	0.0133	L	0.46614	1.455	0.80722	D	1	P	0.43231	0.801	B	0.36092	0.217	T	0.01222	-1.1414	10	0.56958	D	0.05	-26.8705	11.4188	0.49969	0.0891:0.0:0.9109:0.0	.	376	Q9Y6V7	DDX49_HUMAN	M	376	ENSP00000247003:V376M	ENSP00000247003:V376M	V	+	1	0	DDX49	18899598	1.000000	0.71417	0.694000	0.30210	0.271000	0.26615	4.375000	0.59549	0.824000	0.34613	-0.215000	0.12644	GTG		0.582	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464593.1	NM_019070	
CLASRP	11129	broad.mit.edu	37	19	45565453	45565453	+	Splice_Site	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr19:45565453G>A	ENST00000221455.3	+	11	1003	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	CLASRP_ENST00000544944.2_Splice_Site_p.R302Q|CLASRP_ENST00000391953.4_Splice_Site_p.R240Q	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	302					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.R302Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCTATAAGCGGTAAGTTGCT	0.562																																					p.R302Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G905A	19						.						103.0	94.0	97.0					19																	45565453		2203	4300	6503	50257293	SO:0001630	splice_region_variant	11129	exon11			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.905+1G>A	19.37:g.45565453G>A		Somatic		Capture	Illumina HiSeq	Phase_I	50257293	NM_007056	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579275	0.86645	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.36878	2.81;2.81;2.81;1.23	5.25	5.25	0.73442	.	0.000000	0.33199	U	0.005167	T	0.57651	0.2068	M	0.65975	2.015	0.80722	D	1	D;P;D	0.69078	0.997;0.786;0.994	D;B;P	0.66847	0.947;0.231;0.885	T	0.58375	-0.7647	10	0.59425	D	0.04	-13.4603	16.3971	0.83610	0.0:0.0:1.0:0.0	.	240;302;302	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	Q	302;302;240;302	ENSP00000221455:R302Q;ENSP00000375814:R302Q;ENSP00000375815:R240Q;ENSP00000438702:R302Q	ENSP00000221455:R302Q	R	+	2	0	CLASRP	50257293	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	8.804000	0.91921	2.724000	0.93272	0.563000	0.77884	CGG		0.562	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056	Missense_Mutation
ZNF578	147660	broad.mit.edu	37	19	53015142	53015142	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr19:53015142G>T	ENST00000421239.2	+	6	1752	c.1508G>T	c.(1507-1509)aGa>aTa	p.R503I	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R503I(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGCCATCGTAGACTTCATAGT	0.408																																					p.R503I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1508T	19						.						85.0	88.0	87.0					19																	53015142		2203	4300	6503	57706954	SO:0001583	missense	147660	exon6			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1508G>T	19.37:g.53015142G>T	ENSP00000459216:p.Arg503Ile	Somatic		Capture	Illumina HiSeq	Phase_I	57706954	NM_001099694	B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	10.04	1.242057	0.22796	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.54	-2.13	0.07144	.	.	.	.	.	T	0.22820	0.0551	L	0.59967	1.855	0.22412	N	0.999127	P	0.38992	0.653	B	0.31390	0.129	T	0.14811	-1.0459	7	.	.	.	.	0.2608	0.00218	0.3041:0.2025:0.2889:0.2045	.	503	G3V4F6	.	I	503	.	.	R	+	2	0	ZNF578	57706954	0.000000	0.05858	0.006000	0.13384	0.252000	0.25951	-0.503000	0.06383	-0.570000	0.06022	0.306000	0.20318	AGA		0.408	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	
ZNF28	7576	broad.mit.edu	37	19	53303674	53303674	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr19:53303674A>C	ENST00000457749.2	-	4	1543	c.1424T>G	c.(1423-1425)gTt>gGt	p.V475G	ZNF28_ENST00000438150.2_Missense_Mutation_p.V422G|ZNF28_ENST00000414252.2_Missense_Mutation_p.V422G|ZNF28_ENST00000360272.4_Missense_Mutation_p.V422G	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V422G(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GCACCTGAAAACTTTGTCACA	0.388																																					p.V475G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1424G	19						.						112.0	114.0	114.0					19																	53303674		2203	4300	6503	57995486	SO:0001583	missense	7576	exon4			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1424T>G	19.37:g.53303674A>C	ENSP00000397693:p.Val475Gly	Somatic		Capture	Illumina HiSeq	Phase_I	57995486	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.67	1.414824	0.25465	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	1.74	-3.48	0.04739	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08447	0.0210	N	0.03948	-0.315	0.09310	N	1	P	0.42078	0.77	P	0.45998	0.5	T	0.26121	-1.0112	9	0.54805	T	0.06	.	5.6588	0.17656	0.2144:0.4521:0.3335:0.0	.	475	P17035	ZNF28_HUMAN	G	422;475;422;422;422	ENSP00000412143:V422G;ENSP00000397693:V475G;ENSP00000353410:V422G;ENSP00000444965:V422G;ENSP00000375661:V422G	ENSP00000353410:V422G	V	-	2	0	ZNF28	57995486	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-0.482000	0.06544	-0.886000	0.03966	0.156000	0.16432	GTT		0.388	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
IVL	3713	broad.mit.edu	37	1	152883066	152883066	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr1:152883066C>A	ENST00000368764.3	+	2	857	c.793C>A	c.(793-795)Cac>Aac	p.H265N	IVL_ENST00000392667.2_Missense_Mutation_p.H119N			P07476	INVO_HUMAN	involucrin	265	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.H265N(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			acagctgaagcacctggagca	0.647																																					p.H265N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C793A	1						.						13.0	13.0	13.0					1																	152883066		2028	3966	5994	151149690	SO:0001583	missense	3713	exon2			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.793C>A	1.37:g.152883066C>A	ENSP00000357753:p.His265Asn	Somatic		Capture	Illumina HiSeq	Phase_I	151149690	NM_005547	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558996	0.27827	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11385	3.1;2.78	3.09	2.12	0.27331	.	.	.	.	.	T	0.03305	0.0096	L	0.36672	1.1	0.24258	N	0.995299	B	0.29909	0.261	B	0.34093	0.175	T	0.43196	-0.9406	9	0.31617	T	0.26	.	9.0866	0.36586	0.2213:0.7786:0.0:0.0	.	265	P07476	INVO_HUMAN	N	265;119	ENSP00000357753:H265N;ENSP00000376435:H119N	ENSP00000357753:H265N	H	+	1	0	IVL	151149690	0.000000	0.05858	0.024000	0.17045	0.037000	0.13140	-0.905000	0.04075	0.589000	0.29677	0.194000	0.17425	CAC		0.647	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547	
CD5L	922	broad.mit.edu	37	1	157811480	157811480	+	Silent	SNP	T	T	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr1:157811480T>A	ENST00000368174.4	-	1	108	c.12A>T	c.(10-12)ctA>ctT	p.L4L	CD5L_ENST00000484609.1_Intron	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	4					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.L4L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCAAGGAGAATAGCAGAGCCA	0.458																																					p.L4L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A12T	1						.						127.0	107.0	114.0					1																	157811480		2203	4300	6503	156078104	SO:0001819	synonymous_variant	922	exon1			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.12A>T	1.37:g.157811480T>A		Somatic		Capture	Illumina HiSeq	Phase_I	156078104	NM_005894	A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	CCDS1171.1																																																																																				0.458	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
CCDC27	148870	broad.mit.edu	37	1	3677890	3677890	+	Missense_Mutation	SNP	G	G	A	rs370631959		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr1:3677890G>A	ENST00000294600.2	+	5	841	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	253								p.E253K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GAAGAAAGACGAGGAGATCCT	0.577																																					p.E253K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757A	1						.	A	LYS/GLU	0,4406		0,0,2203	79.0	75.0	76.0		757	-2.0	0.0	1		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC27	NM_152492.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	253/657	3677890	1,13005	2203	4300	6503	3667750	SO:0001583	missense	148870	exon5				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.757G>A	1.37:g.3677890G>A	ENSP00000294600:p.Glu253Lys	Somatic		Capture	Illumina HiSeq	Phase_I	3667750	NM_152492	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	g	4.092	0.015165	0.07959	0.0	1.16E-4	ENSG00000162592	ENST00000294600	T	0.20463	2.07	3.75	-2.05	0.07321	.	1.115670	0.06890	N	0.804082	T	0.12561	0.0305	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.37686	-0.9695	10	0.17832	T	0.49	-6.8877	7.018	0.24899	0.2058:0.5121:0.2821:0.0	.	253	Q2M243	CCD27_HUMAN	K	253	ENSP00000294600:E253K	ENSP00000294600:E253K	E	+	1	0	CCDC27	3667750	0.001000	0.12720	0.030000	0.17652	0.043000	0.13939	-0.578000	0.05841	-0.523000	0.06409	-2.450000	0.00208	GAG		0.577	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
PER3	8863	broad.mit.edu	37	1	7886690	7886690	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr1:7886690G>A	ENST00000361923.2	+	16	2259	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	PER3_ENST00000377532.3_Missense_Mutation_p.R703Q|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	695	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.R695Q(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GATAAATTCCGAGAAAAGATC	0.423																																					p.R695Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2084A	1						.						65.0	59.0	61.0					1																	7886690		2203	4300	6503	7809277	SO:0001583	missense	8863	exon16			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2084G>A	1.37:g.7886690G>A	ENSP00000355031:p.Arg695Gln	Somatic		Capture	Illumina HiSeq	Phase_I	7809277	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759552	0.69763	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.14391	2.51;2.57	4.76	0.728	0.18260	.	0.207171	0.42294	D	0.000733	T	0.21103	0.0508	L	0.52364	1.645	0.37954	D	0.932762	D;D;D;D	0.76494	0.988;0.998;0.999;0.988	P;P;D;P	0.63597	0.575;0.826;0.916;0.575	T	0.08576	-1.0715	10	0.72032	D	0.01	.	3.4266	0.07413	0.1513:0.1354:0.573:0.1403	.	695;703;703;695	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	Q	703;695	ENSP00000366755:R703Q;ENSP00000355031:R695Q	ENSP00000355031:R695Q	R	+	2	0	PER3	7809277	0.416000	0.25424	0.008000	0.14137	0.625000	0.37756	0.465000	0.22004	-0.013000	0.14199	-0.140000	0.14226	CGA		0.423	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831	
BRINP3	339479	broad.mit.edu	37	1	190250771	190250771	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr1:190250771G>A	ENST00000367462.3	-	3	577	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	116	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R116C(2)									GTAGGTCGACGTCCCAAAAGT	0.453																																					p.R116C												FAM5C,kidney,NS,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C346T	1						.						93.0	89.0	90.0					1																	190250771		2203	4300	6503	188517394	SO:0001583	missense	339479	exon3			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.346C>T	1.37:g.190250771G>A	ENSP00000356432:p.Arg116Cys	Somatic		Capture	Illumina HiSeq	Phase_I	188517394	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507126	0.85282	.	.	ENSG00000162670	ENST00000367462	D	0.84589	-1.87	5.67	5.67	0.87782	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91426	0.5162	10	0.87932	D	0	.	12.2338	0.54503	0.0:0.0:0.83:0.17	.	116	Q76B58	FAM5C_HUMAN	C	116	ENSP00000356432:R116C	ENSP00000356432:R116C	R	-	1	0	FAM5C	188517394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.508000	0.73721	2.677000	0.91161	0.585000	0.79938	CGT		0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
SDCBP2	27111	broad.mit.edu	37	20	1293352	1293352	+	Missense_Mutation	SNP	G	G	A	rs138600579	byFrequency	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr20:1293352G>A	ENST00000360779.3	-	6	612	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	SDCBP2_ENST00000467129.1_5'Flank|SDCBP2_ENST00000381808.3_Missense_Mutation_p.R62C|SDCBP2_ENST00000339987.3_Missense_Mutation_p.R147C|SDCBP2_ENST00000381812.1_Missense_Mutation_p.R147C	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	147	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R147C(2)|p.R62C(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						TCCCCAAAGCGCAGCCCCACA	0.627																																					p.R147C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C439T	20						.	G	CYS/ARG,CYS/ARG,CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	56.0	53.0	54.0		439,184,439	4.5	1.0	20	dbSNP_134	54	0,8600		0,0,4300	no	missense,missense,missense	SDCBP2	NM_001199784.1,NM_015685.5,NM_080489.4	180,180,180	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging,probably-damaging	147/293,62/208,147/293	1293352	6,13000	2203	4300	6503	1241352	SO:0001583	missense	27111	exon6			AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.439C>T	20.37:g.1293352G>A	ENSP00000354013:p.Arg147Cys	Somatic		Capture	Illumina HiSeq	Phase_I	1241352	NM_080489	O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Missense_Mutation	SNP	ENST00000360779.3	37	CCDS42848.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.034625	0.75617	0.001362	0.0	ENSG00000125775	ENST00000381812;ENST00000381808;ENST00000360779;ENST00000339987	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.51	4.51	0.55191	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74343	-0.3696	10	0.87932	D	0	-0.0857	12.503	0.55966	0.0:0.0:0.833:0.167	.	147	Q9H190	SDCB2_HUMAN	C	147;62;147;147	ENSP00000371233:R147C;ENSP00000371229:R62C;ENSP00000354013:R147C;ENSP00000342935:R147C	ENSP00000342935:R147C	R	-	1	0	SDCBP2	1241352	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.380000	0.59581	2.477000	0.83638	0.561000	0.74099	CGC		0.627	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077513.2	NM_080489	
PAX1	5075	broad.mit.edu	37	20	21689940	21689940	+	Silent	SNP	C	C	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr20:21689940C>T	ENST00000398485.2	+	4	1194	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	PAX1_ENST00000444366.2_Silent_p.S356S|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	380					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S286S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGTGTACAGCGCCCCGGGCG	0.761																																					p.S380S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1140T	20						.						28.0	36.0	34.0					20																	21689940		2173	4244	6417	21637940	SO:0001819	synonymous_variant	5075	exon4				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1140C>T	20.37:g.21689940C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21637940	NM_006192	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	CCDS13146.2																																																																																				0.761	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3		
TRIOBP	11078	broad.mit.edu	37	22	38119272	38119272	+	Missense_Mutation	SNP	C	C	T	rs144995033	byFrequency	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr22:38119272C>T	ENST00000406386.3	+	7	964	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	237					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.R237W(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGAGCGGCACCGGTCAACACT	0.652													C|||	5	0.000998403	0.0008	0.0014	5008	,	,		16500	0.002		0.001	False		,,,				2504	0.0				p.R237W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C709T	22						.	C	TRP/ARG	0,4202		0,0,2101	38.0	44.0	42.0		709	-0.3	0.0	22	dbSNP_134	42	2,8428		0,2,4213	yes	missense	TRIOBP	NM_001039141.2	101	0,2,6314	TT,TC,CC		0.0237,0.0,0.0158	benign	237/2366	38119272	2,12630	2101	4215	6316	36449218	SO:0001583	missense	11078	exon7			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.709C>T	22.37:g.38119272C>T	ENSP00000384312:p.Arg237Trp	Somatic		Capture	Illumina HiSeq	Phase_I	36449218	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	4	0.0018315018315018315	1	0.0020325203252032522	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	C	12.55	1.973052	0.34848	0.0	2.37E-4	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.26373	1.74	4.74	-0.304	0.12788	.	.	.	.	.	T	0.10252	0.0251	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26087	-1.0113	9	0.72032	D	0.01	.	3.3994	0.07317	0.2179:0.4646:0.0:0.3174	.	237	Q9H2D6	TARA_HUMAN	W	237	ENSP00000384312:R237W	ENSP00000384312:R237W	R	+	1	2	TRIOBP	36449218	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	0.123000	0.15708	0.103000	0.17682	-0.464000	0.05259	CGG		0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
TNRC6B	23112	broad.mit.edu	37	22	40697160	40697160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr22:40697160C>T	ENST00000454349.2	+	15	4154	c.3943C>T	c.(3943-3945)Cga>Tga	p.R1315*	TNRC6B_ENST00000301923.9_Nonsense_Mutation_p.R511*|TNRC6B_ENST00000402203.1_Nonsense_Mutation_p.R511*|TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.R1205*	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1315	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R1329*(1)		breast(1)	1						TCAGCTGGCTCGAATGGTGAG	0.602																																					p.R1205X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3613T	22						.						16.0	18.0	17.0					22																	40697160		2111	4176	6287	39027106	SO:0001587	stop_gained	23112	exon13			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3943C>T	22.37:g.40697160C>T	ENSP00000401946:p.Arg1315*	Somatic		Capture	Illumina HiSeq	Phase_I	39027106	NM_015088	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	44	10.914779	0.99488	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	.	.	.	5.61	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.858	15.7695	0.78157	0.1413:0.8587:0.0:0.0	.	.	.	.	X	511;511;1315;1205;1205	.	ENSP00000306759:R511X	R	+	1	2	TNRC6B	39027106	1.000000	0.71417	0.985000	0.45067	0.794000	0.44872	2.948000	0.49066	1.437000	0.47472	0.655000	0.94253	CGA		0.602	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
ZBED4	9889	broad.mit.edu	37	22	50279024	50279024	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr22:50279024G>A	ENST00000216268.5	+	2	2191	c.1714G>A	c.(1714-1716)Gca>Aca	p.A572T		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	572						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A572T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TATTTGCTCCGCAGACTCCAC	0.463																																					p.A572T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1714A	22						.						65.0	73.0	70.0					22																	50279024		2203	4300	6503	48665028	SO:0001583	missense	9889	exon2			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1714G>A	22.37:g.50279024G>A	ENSP00000216268:p.Ala572Thr	Somatic		Capture	Illumina HiSeq	Phase_I	48665028	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262378	0.59431	.	.	ENSG00000100426	ENST00000216268	T	0.48836	0.8	5.76	4.75	0.60458	Zinc finger, BED-type predicted (3);	0.116371	0.56097	N	0.000026	T	0.29423	0.0733	N	0.08118	0	0.54753	D	0.999987	P	0.50272	0.933	B	0.41917	0.37	T	0.08973	-1.0696	10	0.28530	T	0.3	-13.1387	14.8165	0.70039	0.0692:0.0:0.9308:0.0	.	572	O75132	ZBED4_HUMAN	T	572	ENSP00000216268:A572T	ENSP00000216268:A572T	A	+	1	0	ZBED4	48665028	1.000000	0.71417	0.448000	0.26945	0.933000	0.57130	3.570000	0.53834	1.454000	0.47793	0.591000	0.81541	GCA		0.463	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838	
SLC8A1	6546	broad.mit.edu	37	2	40656129	40656129	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr2:40656129C>T	ENST00000403092.1	-	2	1325	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	SLC8A1_ENST00000542756.1_Missense_Mutation_p.R431H|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R431H|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R431H|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R431H|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R431H|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R431H|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R431H|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R431H|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R431H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	431	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R431H(2)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCACCTCTGCGGATAATGGT	0.433																																					p.R431H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1292A	2						.						97.0	84.0	88.0					2																	40656129		2203	4300	6503	40509633	SO:0001583	missense	6546	exon1				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1292G>A	2.37:g.40656129C>T	ENSP00000384763:p.Arg431His	Somatic		Capture	Illumina HiSeq	Phase_I	40509633	NM_001112800	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152140	0.78001	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.043864	0.85682	D	0.000000	D	0.84701	0.5530	H	0.99058	4.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999	D	0.89881	0.4030	10	0.72032	D	0.01	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	431;431;431;431;431	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	H	431	ENSP00000383886:R431H;ENSP00000440727:R431H;ENSP00000384763:R431H;ENSP00000385678:R431H;ENSP00000385188:R431H;ENSP00000385535:R431H;ENSP00000332931:R431H;ENSP00000384908:R431H;ENSP00000385811:R431H;ENSP00000443515:R431H	ENSP00000332931:R431H	R	-	2	0	SLC8A1	40509633	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.663000	0.83820	2.941000	0.99782	0.655000	0.94253	CGC		0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
PRKCE	5581	broad.mit.edu	37	2	46211799	46211799	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr2:46211799G>A	ENST00000306156.3	+	6	1130	c.803G>A	c.(802-804)cGg>cAg	p.R268Q		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	268					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.R268Q(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GGACTCTTGCGGCAGGGTTTG	0.567																																					p.R268Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G803A	2						.						137.0	142.0	140.0					2																	46211799		2091	4216	6307	46065303	SO:0001583	missense	5581	exon6				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.803G>A	2.37:g.46211799G>A	ENSP00000306124:p.Arg268Gln	Somatic		Capture	Illumina HiSeq	Phase_I	46065303	NM_005400	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.676369	0.96764	.	.	ENSG00000171132	ENST00000306156	D	0.92911	-3.13	4.83	4.83	0.62350	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	M	0.74389	2.26	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	D	0.95956	0.8958	10	0.66056	D	0.02	.	18.1252	0.89583	0.0:0.0:1.0:0.0	.	268	Q02156	KPCE_HUMAN	Q	268	ENSP00000306124:R268Q	ENSP00000306124:R268Q	R	+	2	0	PRKCE	46065303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.803000	0.85983	2.499000	0.84300	0.655000	0.94253	CGG		0.567	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2		
USP34	9736	broad.mit.edu	37	2	61522391	61522391	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr2:61522391T>C	ENST00000398571.2	-	31	4365	c.4289A>G	c.(4288-4290)aAa>aGa	p.K1430R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1430					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.K1430R(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCTCTTAATTTTGAGAAGTTC	0.338																																					p.K1430R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4289G	2						.						93.0	87.0	89.0					2																	61522391		1805	4069	5874	61375895	SO:0001583	missense	9736	exon31			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4289A>G	2.37:g.61522391T>C	ENSP00000381577:p.Lys1430Arg	Somatic		Capture	Illumina HiSeq	Phase_I	61375895	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119050	0.37436	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03301	3.98	5.08	1.25	0.21368	.	0.156215	0.56097	N	0.000039	T	0.01124	0.0037	N	0.00926	-1.1	0.27002	N	0.9649	B	0.02656	0.0	B	0.01281	0.0	T	0.47761	-0.9092	10	0.10636	T	0.68	.	6.5723	0.22545	0.0:0.5608:0.0:0.4392	.	1430	Q70CQ2	UBP34_HUMAN	R	1278;1278;1430	ENSP00000381577:K1430R	ENSP00000263989:K1278R	K	-	2	0	USP34	61375895	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.404000	0.52623	0.253000	0.21552	0.533000	0.62120	AAA		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
TET3	200424	broad.mit.edu	37	2	74328440	74328440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr2:74328440C>T	ENST00000409262.3	+	9	4120	c.4120C>T	c.(4120-4122)Cga>Tga	p.R1374*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1374					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.R651*(1)|p.R1374*(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGACGGCTGCGAGGCAAACC	0.677																																					p.R1374X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C4120T	2						.						23.0	30.0	28.0					2																	74328440		1913	4122	6035	74181948	SO:0001587	stop_gained	200424	exon9				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4120C>T	2.37:g.74328440C>T	ENSP00000386869:p.Arg1374*	Somatic		Capture	Illumina HiSeq	Phase_I	74181948	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Nonsense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	40	8.079608	0.98643	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	.	.	.	5.08	4.18	0.49190	.	0.263863	0.26265	N	0.025375	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	11.6551	0.51313	0.0:0.9116:0.0:0.0884	.	.	.	.	X	1374	.	ENSP00000233310:R1374X	R	+	1	2	TET3	74181948	0.829000	0.29322	0.983000	0.44433	0.965000	0.64279	1.915000	0.39976	2.639000	0.89480	0.655000	0.94253	CGA		0.677	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
GPD2	2820	broad.mit.edu	37	2	157407119	157407119	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr2:157407119G>A	ENST00000310454.6	+	8	1204	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	GPD2_ENST00000409125.4_Missense_Mutation_p.E51K|GPD2_ENST00000409674.1_Missense_Mutation_p.E278K|GPD2_ENST00000540309.1_Missense_Mutation_p.E278K|GPD2_ENST00000438166.2_Missense_Mutation_p.E278K	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	278					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.E278K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CACAGGGCAGGAATTTGACGT	0.443																																					p.E278K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G832A	2						.						129.0	110.0	116.0					2																	157407119		2203	4300	6503	157115365	SO:0001583	missense	2820	exon8				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.832G>A	2.37:g.157407119G>A	ENSP00000308610:p.Glu278Lys	Somatic		Capture	Illumina HiSeq	Phase_I	157115365	NM_001083112	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211522	0.79240	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000540309;ENST00000409674	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.81	5.81	0.92471	FAD dependent oxidoreductase (1);	0.103590	0.64402	D	0.000001	T	0.80507	0.4636	L	0.58101	1.795	0.80722	D	1	B	0.02656	0.0	B	0.18263	0.021	T	0.74645	-0.3596	10	0.51188	T	0.08	.	20.0701	0.97718	0.0:0.0:1.0:0.0	.	278	P43304	GPDM_HUMAN	K	278;51;278;278;278	ENSP00000308610:E278K;ENSP00000386484:E51K;ENSP00000409708:E278K;ENSP00000440892:E278K;ENSP00000386425:E278K	ENSP00000308610:E278K	E	+	1	0	GPD2	157115365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.604000	0.74150	2.743000	0.94032	0.655000	0.94253	GAA		0.443	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3		
CNTN6	27255	broad.mit.edu	37	3	1371543	1371543	+	Missense_Mutation	SNP	G	G	A	rs144743086		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr3:1371543G>A	ENST00000446702.2	+	11	1915	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	CNTN6_ENST00000350110.2_Missense_Mutation_p.G430R|CNTN6_ENST00000539053.1_Missense_Mutation_p.G358R			Q9UQ52	CNTN6_HUMAN	contactin 6	430	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G430R(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TATTGTTATCGGATGCAAACC	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15030	0.0		0.0	False		,,,				2504	0.0				p.G430R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1288A	3						.	G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	70.0	74.0	73.0		1288	5.7	0.5	3	dbSNP_134	73	0,8598		0,0,4299	no	missense	CNTN6	NM_014461.2	125	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	430/1029	1371543	1,13003	2203	4299	6502	1346543	SO:0001583	missense	27255	exon11			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1288G>A	3.37:g.1371543G>A	ENSP00000407822:p.Gly430Arg	Somatic		Capture	Illumina HiSeq	Phase_I	1346543	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.94	3.728987	0.69074	2.27E-4	0.0	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.65916	-0.18;-0.18;-0.18	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.355993	0.24479	N	0.038176	T	0.36826	0.0981	N	0.01493	-0.835	0.36207	D	0.851136	P	0.38280	0.625	B	0.33750	0.169	T	0.56062	-0.8041	10	0.49607	T	0.09	.	18.0493	0.89343	0.0:0.0:1.0:0.0	.	430	Q9UQ52	CNTN6_HUMAN	R	430;358;430	ENSP00000407822:G430R;ENSP00000442791:G358R;ENSP00000341882:G430R	ENSP00000341882:G430R	G	+	1	0	CNTN6	1346543	1.000000	0.71417	0.510000	0.27712	0.887000	0.51463	5.913000	0.69957	2.689000	0.91719	0.563000	0.77884	GGA		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
NAA50	80218	broad.mit.edu	37	3	113442877	113442877	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr3:113442877A>G	ENST00000240922.3	-	2	398	c.74T>C	c.(73-75)gTc>gCc	p.V25A	NAA50_ENST00000477813.1_Missense_Mutation_p.V25A|NAA50_ENST00000497255.1_Missense_Mutation_p.V24A|NAA50_ENST00000467022.1_5'UTR|NAA50_ENST00000493454.1_5'UTR|NAA50_ENST00000497525.1_5'UTR|NAA50_ENST00000493900.1_Missense_Mutation_p.V24A	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	25	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				histone H4 acetylation (GO:0043967)|mitotic sister chromatid cohesion, centromeric (GO:0071962)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)|peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0052858)	p.V25A(1)		large_intestine(2)|lung(2)|skin(1)	5						TGGAAAGATGACCTGATTCAA	0.388																																					p.V25A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T74C	3						.						97.0	96.0	96.0					3																	113442877		2203	4300	6503	114925567	SO:0001583	missense	80218	exon2			AK023256	CCDS2975.1	3q13.31	2010-05-07	2010-01-14	2010-01-14	ENSG00000121579	ENSG00000121579	2.3.1.-	"""N(alpha)-acetyltransferase subunits"""	29533	protein-coding gene	gene with protein product		610834	"""Mak3 homolog (S. cerevisiae)"", ""N-acetyltransferase 13"", ""N-acetyltransferase 13 (GCN5-related)"""	MAK3, NAT13		16507339, 17502424, 19660095	Standard	NM_025146		Approved	FLJ13194, NAT5, San	uc003ean.2	Q9GZZ1	OTTHUMG00000159294	ENST00000240922.3:c.74T>C	3.37:g.113442877A>G	ENSP00000240922:p.Val25Ala	Somatic		Capture	Illumina HiSeq	Phase_I	114925567	NM_025146	D3DN74|Q68DQ1	Missense_Mutation	SNP	ENST00000240922.3	37	CCDS2975.1	.	.	.	.	.	.	.	.	.	.	a	15.24	2.773577	0.49786	.	.	ENSG00000121579	ENST00000240922;ENST00000313396;ENST00000477813;ENST00000497255;ENST00000493900;ENST00000478020	T;T	0.39406	1.08;1.08	6.07	6.07	0.98685	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	N	0.21583	0.68	0.80722	D	1	B	0.18461	0.028	B	0.18871	0.023	T	0.09422	-1.0675	10	0.19590	T	0.45	0.1052	16.6406	0.85098	1.0:0.0:0.0:0.0	.	25	Q9GZZ1	NAA50_HUMAN	A	25;25;25;24;24;24	ENSP00000240922:V25A;ENSP00000417837:V24A	ENSP00000240922:V25A	V	-	2	0	NAA50	114925567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.248000	0.95456	2.326000	0.78906	0.533000	0.62120	GTC		0.388	NAA50-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354446.2	NM_025146	
QRICH1	54870	broad.mit.edu	37	3	49114348	49114348	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr3:49114348C>A	ENST00000395443.2	-	2	575	c.103G>T	c.(103-105)Gcc>Tcc	p.A35S	QRICH1_ENST00000424300.1_Missense_Mutation_p.A35S|QRICH1_ENST00000357496.2_Missense_Mutation_p.A35S	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	35	CARD.					nucleus (GO:0005634)		p.A35S(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCCTTAGAGGCCAGTGAGTCC	0.512																																					p.A35S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G103T	3						.						120.0	115.0	117.0					3																	49114348		2203	4300	6503	49089352	SO:0001583	missense	54870	exon2				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.103G>T	3.37:g.49114348C>A	ENSP00000378830:p.Ala35Ser	Somatic		Capture	Illumina HiSeq	Phase_I	49089352	NM_198880	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523340	0.85600	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300;ENST00000437939;ENST00000450685;ENST00000411682;ENST00000430979	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	N	0.11560	0.145	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.60073	-0.7334	10	0.52906	T	0.07	-4.0216	19.8677	0.96824	0.0:1.0:0.0:0.0	.	35	Q2TAL8	QRIC1_HUMAN	S	35	ENSP00000378830:A35S;ENSP00000350094:A35S;ENSP00000412890:A35S;ENSP00000416133:A35S;ENSP00000413051:A35S;ENSP00000412870:A35S;ENSP00000405505:A35S	ENSP00000350094:A35S	A	-	1	0	QRICH1	49089352	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.709000	0.92574	0.655000	0.94253	GCC		0.512	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
GMPPB	29925	broad.mit.edu	37	3	49759691	49759691	+	Silent	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr3:49759691G>A	ENST00000480687.1	-	8	857	c.741C>T	c.(739-741)ggC>ggT	p.G247G	GMPPB_ENST00000308375.6_Silent_p.G247G|AMIGO3_ENST00000535833.1_5'UTR|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308388.6_Silent_p.G247G			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	247					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)	p.G247G(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAATGCCAGGGCCTGAGCACA	0.587																																					p.G247G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C741T	3						.						65.0	69.0	67.0					3																	49759691		2203	4300	6503	49734695	SO:0001819	synonymous_variant	29925	exon7			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.741C>T	3.37:g.49759691G>A		Somatic		Capture	Illumina HiSeq	Phase_I	49734695	NM_013334	A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	CCDS2803.1																																																																																				0.587	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334	
PIK3CA	5290	broad.mit.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	rs121913272		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> R (in CLOVE and CRC; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). {ECO:0000269|PubMed:22658544}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.C420R	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA,central_nervous_system,brain,Substitution - Missense,0 	.	40	Substitution - Missense(40)	breast(15)|large_intestine(10)|endometrium(7)|central_nervous_system(2)|lung(2)|prostate(2)|stomach(1)|NS(1)	c.T1258C	3						.						85.0	80.0	82.0					3																	178927980		1822	4078	5900	180410674	SO:0001583	missense	5290	exon8				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1258T>C	3.37:g.178927980T>C	ENSP00000263967:p.Cys420Arg	Somatic		Capture	Illumina HiSeq	Phase_I	180410674	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925687	0.73213	.	.	ENSG00000121879	ENST00000263967	T	0.68903	-0.36	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.74284	-0.3715	10	0.25751	T	0.34	-11.2314	15.6207	0.76805	0.0:0.0:0.0:1.0	.	420	P42336	PK3CA_HUMAN	R	420	ENSP00000263967:C420R	ENSP00000263967:C420R	C	+	1	0	PIK3CA	180410674	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.698000	0.84413	2.105000	0.64084	0.460000	0.39030	TGT		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PCDH18	54510	broad.mit.edu	37	4	138452696	138452697	+	Frame_Shift_Ins	INS	-	-	A	rs377345990		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	-	-	-	-	-	-	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr4:138452696_138452697insA	ENST00000344876.4	-	1	932_933	c.546_547insT	c.(544-549)tttaatfs	p.N183fs	PCDH18_ENST00000412923.2_Frame_Shift_Ins_p.N183fs|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	183	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCTCGATATTAAAAAAATCAT	0.49																																					p.N183_I184delinsX												.	.	0			c.547_548insT	4						.																																			138672147	SO:0001589	frameshift_variant	54510	exon1			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.547dupT	4.37:g.138452703_138452703dupA	ENSP00000355082:p.Asn183fs	None		Capture	Illumina HiSeq	Phase_I	138672146	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Frame_Shift_Ins	INS	ENST00000344876.4	37	CCDS34064.1																																																																																				0.490	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
SPATA5	166378	broad.mit.edu	37	4	123850245	123850245	+	Silent	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr4:123850245G>A	ENST00000274008.4	+	3	408	c.339G>A	c.(337-339)ctG>ctA	p.L113L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	113					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.L113L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGGTCGGCCTGAGTGAAATGG	0.483																																					p.L113L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G339A	4						.						100.0	93.0	95.0					4																	123850245		2203	4300	6503	124069695	SO:0001819	synonymous_variant	166378	exon3			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.339G>A	4.37:g.123850245G>A		Somatic		Capture	Illumina HiSeq	Phase_I	124069695	NM_145207	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	CCDS3730.1																																																																																				0.483	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207	
GUCY1A3	2982	broad.mit.edu	37	4	156632086	156632086	+	Missense_Mutation	SNP	G	G	A	rs372152908		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr4:156632086G>A	ENST00000296518.7	+	6	978	c.769G>A	c.(769-771)Gtt>Att	p.V257I	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V257I|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V257I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V257I|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V257I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V257I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	257					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.V257I(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTTGTACTCCGTTCACATGAA	0.473																																					p.V257I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G769A	4						.	A	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	126.0	119.0	121.0		769,769,769,769,64,769,769	2.1	0.0	4		121	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense,missense,missense,missense,missense	GUCY1A3	NM_000856.4,NM_001130682.1,NM_001130683.2,NM_001130684.1,NM_001130685.1,NM_001130686.1,NM_001130687.1	29,29,29,29,29,29,29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign,benign,benign,benign,benign	257/691,257/691,257/691,257/691,22/456,257/367,257/625	156632086	3,13003	2203	4300	6503	156851536	SO:0001583	missense	2982	exon6				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.769G>A	4.37:g.156632086G>A	ENSP00000296518:p.Val257Ile	Somatic		Capture	Illumina HiSeq	Phase_I	156851536	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	g	2.214	-0.380037	0.05000	0.0	3.49E-4	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.69;-1.83;-1.83;-1.83	5.76	2.13	0.27403	.	0.573978	0.16511	N	0.211234	T	0.74450	0.3718	L	0.34521	1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.58787	-0.7575	10	0.30854	T	0.27	.	7.1078	0.25372	0.2718:0.1145:0.6136:0.0	.	257;257;257	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	I	257	ENSP00000424361:V257I;ENSP00000421493:V257I;ENSP00000426968:V257I;ENSP00000412201:V257I;ENSP00000296518:V257I;ENSP00000426040:V257I	ENSP00000296518:V257I	V	+	1	0	GUCY1A3	156851536	1.000000	0.71417	0.000000	0.03702	0.010000	0.07245	3.603000	0.54074	0.156000	0.19299	-0.131000	0.14894	GTT		0.473	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
TLL1	7092	broad.mit.edu	37	4	166915629	166915629	+	Missense_Mutation	SNP	C	C	T	rs115824698	byFrequency	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr4:166915629C>T	ENST00000061240.2	+	4	1105	c.458C>T	c.(457-459)aCg>aTg	p.T153M	TLL1_ENST00000507499.1_Missense_Mutation_p.T153M|TLL1_ENST00000513213.1_Missense_Mutation_p.T153M	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	153	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T153M(2)|p.T153K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACATCAAGAACGGAAAGAATA	0.413													C|||	4	0.000798722	0.0	0.0	5008	,	,		16422	0.004		0.0	False		,,,				2504	0.0				p.T153M												.	.	3	Substitution - Missense(3)	large_intestine(2)|kidney(1)	c.C458T	4						.	C	MET/THR,MET/THR	0,4406		0,0,2203	72.0	71.0	71.0		458,458	5.5	1.0	4	dbSNP_132	71	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TLL1	NM_001204760.1,NM_012464.4	81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	153/393,153/1014	166915629	2,13004	2203	4300	6503	167135079	SO:0001583	missense	7092	exon4			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.458C>T	4.37:g.166915629C>T	ENSP00000061240:p.Thr153Met	Somatic		Capture	Illumina HiSeq	Phase_I	167135079	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	16.45	3.125917	0.56721	0.0	2.33E-4	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.51	5.51	0.81932	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.063495	0.64402	U	0.000005	T	0.51873	0.1700	N	0.19112	0.55	0.54753	D	0.999987	D;D	0.76494	0.998;0.999	P;P	0.51016	0.585;0.656	T	0.61322	-0.7086	10	0.51188	T	0.08	.	19.4226	0.94727	0.0:1.0:0.0:0.0	.	153;153	E9PD25;O43897	.;TLL1_HUMAN	M	153;153;153;53	ENSP00000061240:T153M;ENSP00000426082:T153M;ENSP00000422937:T153M;ENSP00000423748:T53M	ENSP00000061240:T153M	T	+	2	0	TLL1	167135079	1.000000	0.71417	0.961000	0.40146	0.002000	0.02628	6.005000	0.70716	2.593000	0.87608	0.655000	0.94253	ACG		0.413	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
GABRG1	2565	broad.mit.edu	37	4	46060510	46060510	+	Missense_Mutation	SNP	G	G	A	rs369652618		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr4:46060510G>A	ENST00000295452.4	-	6	922	c.755C>T	c.(754-756)aCg>aTg	p.T252M		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	252					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T252M(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACCAGAGATCGTGTGAGTGAT	0.328																																					p.T252M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C755T	4						.	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	89.0	86.0	87.0		755	5.8	1.0	4		87	0,8600		0,0,4300	no	missense	GABRG1	NM_173536.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	252/466	46060510	1,13005	2203	4300	6503	45755267	SO:0001583	missense	2565	exon6			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.755C>T	4.37:g.46060510G>A	ENSP00000295452:p.Thr252Met	Somatic		Capture	Illumina HiSeq	Phase_I	45755267	NM_173536	Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602615	0.87157	2.27E-4	0.0	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.78003	-1.14	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89543	0.6745	M	0.85710	2.77	0.47862	D	0.999532	D	0.89917	1.0	D	0.74023	0.982	D	0.89753	0.3941	10	0.56958	D	0.05	.	19.1642	0.93548	0.0:0.0:1.0:0.0	.	252	Q8N1C3	GBRG1_HUMAN	M	252	ENSP00000295452:T252M	ENSP00000295452:T252M	T	-	2	0	GABRG1	45755267	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.974000	0.88039	2.775000	0.95449	0.650000	0.86243	ACG		0.328	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
ADAM29	11086	broad.mit.edu	37	4	175898741	175898741	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr4:175898741A>G	ENST00000359240.3	+	5	2735	c.2065A>G	c.(2065-2067)Att>Gtt	p.I689V	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.I689V|ADAM29_ENST00000514159.1_Missense_Mutation_p.I689V|ADAM29_ENST00000404450.4_Missense_Mutation_p.I689V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	689					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I689V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTTTTGTTTATTTTATTATG	0.328																																					p.I689V	Ovarian(140;1727 1835 21805 25838 41440)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2065G	4						.						31.0	35.0	34.0					4																	175898741		2200	4299	6499	176135316	SO:0001583	missense	11086	exon3			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2065A>G	4.37:g.175898741A>G	ENSP00000352177:p.Ile689Val	Somatic		Capture	Illumina HiSeq	Phase_I	176135316	NM_001130705	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	1.992	-0.431605	0.04669	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01871	4.59;4.59;4.59;4.59	3.28	-6.55	0.01854	.	4.337240	0.01502	N	0.017535	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.42275	-0.9461	9	.	.	.	.	4.1235	0.10116	0.1578:0.3239:0.4114:0.1069	.	689	Q9UKF5	ADA29_HUMAN	V	689	ENSP00000352177:I689V;ENSP00000414544:I689V;ENSP00000384229:I689V;ENSP00000423517:I689V	.	I	+	1	0	ADAM29	176135316	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.209000	0.00557	-3.615000	0.00132	-0.263000	0.10527	ATT		0.328	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
EPB41L4A	64097	broad.mit.edu	37	5	111643084	111643084	+	Splice_Site	SNP	G	G	A	rs200620569		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr5:111643084G>A	ENST00000261486.5	-	2	479	c.203C>T	c.(202-204)aCg>aTg	p.T68M		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	68	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.T68M(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTACTCACCGTCTGATGGCT	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		18780	0.0		0.001	False		,,,				2504	0.0				p.T68M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C203T	5						.						100.0	95.0	97.0					5																	111643084		1890	4110	6000	111670983	SO:0001630	splice_region_variant	64097	exon2			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.204+1C>T	5.37:g.111643084G>A		Somatic		Capture	Illumina HiSeq	Phase_I	111670983	NM_022140	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577792	0.86645	.	.	ENSG00000129595	ENST00000261486	T	0.76968	-1.06	5.9	5.9	0.94986	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.056221	0.64402	D	0.000001	D	0.84165	0.5412	L	0.41027	1.25	0.53005	D	0.999969	D	0.89917	1.0	D	0.67231	0.95	D	0.84162	0.0429	10	0.59425	D	0.04	.	19.8748	0.96865	0.0:0.0:1.0:0.0	.	68	Q9HCS5	E41LA_HUMAN	M	68	ENSP00000261486:T68M	ENSP00000261486:T68M	T	-	2	0	EPB41L4A	111670983	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.587000	0.82613	2.805000	0.96524	0.637000	0.83480	ACG		0.403	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		Missense_Mutation
DNAH5	1767	broad.mit.edu	37	5	13714520	13714520	+	Silent	SNP	G	G	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr5:13714520G>T	ENST00000265104.4	-	75	13223	c.13119C>A	c.(13117-13119)ccC>ccA	p.P4373P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4373					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P4373P(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCACTTCAAAGGGGACATAGT	0.527									Kartagener syndrome																												p.P4373P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C13119A	5						.						61.0	65.0	64.0					5																	13714520		2203	4300	6503	13767520	SO:0001819	synonymous_variant	1767	exon75	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13119C>A	5.37:g.13714520G>T		Somatic		Capture	Illumina HiSeq	Phase_I	13767520	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.527	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
APC	324	broad.mit.edu	37	5	112174268	112174268	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr5:112174268A>T	ENST00000457016.1	+	16	3357	c.2977A>T	c.(2977-2979)Aag>Tag	p.K993*	APC_ENST00000257430.4_Nonsense_Mutation_p.K993*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.K993*			P25054	APC_HUMAN	adenomatous polyposis coli	993	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K993fs*11(1)|p.K993fs*1(1)|p.?(1)|p.K993*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGATGAAAGTAAGTTTTGCAG	0.348		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.K975X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	4	Substitution - Nonsense(1)|Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	large_intestine(3)|skin(1)	c.A2923T	5	GRCh37	CM056294	APC	M		.						86.0	81.0	83.0					5																	112174268		2202	4300	6502	112202167	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2977A>T	5.37:g.112174268A>T	ENSP00000413133:p.Lys993*	Somatic		Capture	Illumina HiSeq	Phase_I	112202167	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	38	7.101514	0.98063	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.7215	11.958	0.52993	0.9305:0.0:0.0695:0.0	.	.	.	.	X	993;975;993;993;993	.	ENSP00000257430:K993X	K	+	1	0	APC	112202167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.948000	0.75965	2.201000	0.70794	0.533000	0.62120	AAG		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
CXXC5	51523	broad.mit.edu	37	5	139060331	139060331	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr5:139060331C>T	ENST00000302517.3	+	2	937	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CXXC5_ENST00000511048.1_Missense_Mutation_p.R75C	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	75					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.R75C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGCGCCGCTCCCGCCC	0.647																																					p.R75C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C223T	5						.						56.0	74.0	68.0					5																	139060331		2109	4209	6318	139040515	SO:0001583	missense	51523	exon2			AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.223C>T	5.37:g.139060331C>T	ENSP00000302543:p.Arg75Cys	Somatic		Capture	Illumina HiSeq	Phase_I	139040515	NM_016463	B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	ENST00000302517.3	37	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558054	0.65538	.	.	ENSG00000171604	ENST00000504944;ENST00000302517;ENST00000504844;ENST00000502336;ENST00000520967;ENST00000511048;ENST00000509238;ENST00000502716;ENST00000503511;ENST00000511457	.	.	.	5.41	3.48	0.39840	.	0.210247	0.39341	N	0.001399	T	0.35799	0.0944	N	0.19112	0.55	0.50171	D	0.999857	D	0.76494	0.999	P	0.50490	0.642	T	0.02789	-1.1110	8	.	.	.	-18.3037	7.3435	0.26650	0.2902:0.5776:0.1322:0.0	.	75	Q7LFL8	CXXC5_HUMAN	C	75	.	.	R	+	1	0	CXXC5	139040515	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	3.941000	0.56607	2.531000	0.85337	0.561000	0.74099	CGC		0.647	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463	
PCDHB8	56128	broad.mit.edu	37	5	140559523	140559523	+	Silent	SNP	G	G	A	rs17844502	byFrequency	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr5:140559523G>A	ENST00000239444.2	+	1	2153	c.1908G>A	c.(1906-1908)gcG>gcA	p.A636A	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	636	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A636A(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGCGACGCGGCCAAGCAGA	0.687																																					p.A636A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1908A	5						.						23.0	27.0	26.0					5																	140559523		2081	4117	6198	140539707	SO:0001819	synonymous_variant	56128	exon1			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1908G>A	5.37:g.140559523G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140539707	NM_019120	B9EGV1	Silent	SNP	ENST00000239444.2	37	CCDS4250.1																																																																																				0.687	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
LARS	51520	broad.mit.edu	37	5	145508576	145508576	+	Nonsense_Mutation	SNP	G	G	A	rs199516658		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr5:145508576G>A	ENST00000394434.2	-	26	2900	c.2734C>T	c.(2734-2736)Cga>Tga	p.R912*	LARS_ENST00000510191.1_Nonsense_Mutation_p.R858*|LARS_ENST00000274562.9_Nonsense_Mutation_p.R885*|LARS_ENST00000545646.1_Nonsense_Mutation_p.R866*	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	912					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.R912*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCTTGAGTCGTAGTCTAAGG	0.333													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16918	0.0		0.0	False		,,,				2504	0.0				p.R912X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2734T	5						.						101.0	111.0	108.0					5																	145508576		2203	4300	6503	145488769	SO:0001587	stop_gained	51520	exon26			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2734C>T	5.37:g.145508576G>A	ENSP00000377954:p.Arg912*	Somatic		Capture	Illumina HiSeq	Phase_I	145488769	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Nonsense_Mutation	SNP	ENST00000394434.2	37	CCDS34265.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	38	7.189080	0.98125	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-7.7235	14.7188	0.69289	0.0:0.0:0.8553:0.1447	.	.	.	.	X	912;866;221;858;885	.	ENSP00000274562:R885X	R	-	1	2	LARS	145488769	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	2.896000	0.48656	2.721000	0.93114	0.655000	0.94253	CGA		0.333	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	
GABRG2	2566	broad.mit.edu	37	5	161576232	161576232	+	Silent	SNP	C	C	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr5:161576232C>T	ENST00000361925.4	+	8	1261	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	GABRG2_ENST00000414552.2_Silent_p.F387F|GABRG2_ENST00000393933.4_Silent_p.F252F|GABRG2_ENST00000356592.3_Silent_p.F347F			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	347					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F347F(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTTTGTCTTCTCTGCTCTGG	0.443																																					p.F347F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1041T	5						.						244.0	199.0	214.0					5																	161576232		2203	4300	6503	161508810	SO:0001819	synonymous_variant	2566	exon8				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1041C>T	5.37:g.161576232C>T		Somatic		Capture	Illumina HiSeq	Phase_I	161508810	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	CCDS4358.1																																																																																				0.443	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
F13A1	2162	broad.mit.edu	37	6	6222377	6222377	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr6:6222377C>A	ENST00000264870.3	-	8	1266	c.1001G>T	c.(1000-1002)aGa>aTa	p.R334I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	334					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R334I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTAACAATTCTTGCTGGTAT	0.398																																					p.R334I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1001T	6						.						111.0	97.0	102.0					6																	6222377		2203	4300	6503	6167376	SO:0001583	missense	2162	exon8			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1001G>T	6.37:g.6222377C>A	ENSP00000264870:p.Arg334Ile	Somatic		Capture	Illumina HiSeq	Phase_I	6167376	NM_000129	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.090982|5.090982	0.94149|0.94149	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000445223|ENST00000264870;ENST00000441301	.|D	.|0.97041	.|-4.22	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Transglutaminase-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.99149	.|0.9706	H|H	0.96805|0.96805	3.885|3.885	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	.|D	.|0.99239	.|1.0884	.|10	.|0.87932	.|D	.|0	.|.	19.2867|19.2867	0.94077|0.94077	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|271;334	.|F5H080;P00488	.|.;F13A_HUMAN	X|I	51|334;271	.|ENSP00000264870:R334I	.|ENSP00000264870:R334I	E|R	-|-	1|2	0|0	F13A1|F13A1	6167376|6167376	0.990000|0.990000	0.36364|0.36364	0.278000|0.278000	0.24718|0.24718	0.993000|0.993000	0.82548|0.82548	7.093000|7.093000	0.76937|0.76937	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.398	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	
REV3L	5980	broad.mit.edu	37	6	111678319	111678319	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr6:111678319T>C	ENST00000358835.3	-	19	7536	c.7082A>G	c.(7081-7083)tAt>tGt	p.Y2361C	REV3L_ENST00000435970.1_Missense_Mutation_p.Y2283C|REV3L_ENST00000368802.3_Missense_Mutation_p.Y2361C|REV3L_ENST00000368805.1_Missense_Mutation_p.Y2361C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2361					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.Y2283C(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGGAGTCTGATATCTGATATC	0.264								DNA polymerases (catalytic subunits)																													p.Y2361C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7082G	6						.						60.0	64.0	63.0					6																	111678319		2203	4298	6501	111785012	SO:0001583	missense	5980	exon18			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7082A>G	6.37:g.111678319T>C	ENSP00000351697:p.Tyr2361Cys	Somatic		Capture	Illumina HiSeq	Phase_I	111785012	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	13.89	2.373189	0.42105	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.42131	4.93;4.93;4.93;0.98	5.93	0.639	0.17747	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.808221	0.11603	N	0.547571	T	0.08223	0.0205	N	0.14661	0.345	0.25476	N	0.987788	B	0.02656	0.0	B	0.04013	0.001	T	0.33777	-0.9855	10	0.38643	T	0.18	-0.2141	4.9976	0.14247	0.0:0.2202:0.2708:0.509	.	2361	O60673	DPOLZ_HUMAN	C	2361;2361;2361;2283;434	ENSP00000357792:Y2361C;ENSP00000357795:Y2361C;ENSP00000351697:Y2361C;ENSP00000402003:Y2283C	ENSP00000351697:Y2361C	Y	-	2	0	REV3L	111785012	0.997000	0.39634	0.995000	0.50966	0.992000	0.81027	0.898000	0.28404	-0.104000	0.12154	0.533000	0.62120	TAT		0.264	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
UBN2	254048	broad.mit.edu	37	7	138957092	138957093	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	-	-	-	A	-	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr7:138957092_138957093insA	ENST00000473989.3	+	9	1621_1622	c.1621_1622insA	c.(1621-1623)caafs	p.Q541fs	UBN2_ENST00000288561.8_Frame_Shift_Ins_p.Q458fs	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	541						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AGAACCTCTGCAAAAACTGAAA	0.376																																					p.Q541fs												.	.	0			c.1621_1622insA	7						.																																			138607633	SO:0001589	frameshift_variant	254048	exon9			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1626dupA	7.37:g.138957097_138957097dupA	ENSP00000418648:p.Gln541fs	Germline		Capture	Illumina HiSeq	Phase_I	138607632	NM_173569	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Frame_Shift_Ins	INS	ENST00000473989.3	37	CCDS43655.2																																																																																				0.376	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	
GPER1	2852	broad.mit.edu	37	7	1132106	1132106	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr7:1132106C>T	ENST00000297469.3	+	2	1433	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.R248C|GPER1_ENST00000397092.1_Missense_Mutation_p.R248C|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.R248C|C7orf50_ENST00000397100.2_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	248					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)	p.R248C(1)									GCACCGGCACCGTGGGCTGCG	0.667																																					p.R248C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C742T	7						.						42.0	41.0	41.0					7																	1132106		2202	4300	6502	1098632	SO:0001583	missense	2852	exon2			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.742C>T	7.37:g.1132106C>T	ENSP00000297469:p.Arg248Cys	Somatic		Capture	Illumina HiSeq	Phase_I	1098632	NM_001505	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316458	0.40996	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.200789	0.39985	N	0.001220	T	0.57607	0.2065	M	0.73962	2.25	0.53005	D	0.999965	D	0.89917	1.0	D	0.68621	0.959	T	0.61337	-0.7083	10	0.87932	D	0	-7.8418	11.953	0.52966	0.2754:0.7246:0.0:0.0	.	248	Q99527	GPER_HUMAN	C	248	ENSP00000385151:R248C;ENSP00000380281:R248C;ENSP00000297469:R248C;ENSP00000380277:R248C	ENSP00000297469:R248C	R	+	1	0	GPER	1098632	1.000000	0.71417	0.981000	0.43875	0.019000	0.09904	2.709000	0.47160	2.543000	0.85770	0.643000	0.83706	CGT		0.667	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966	
SGCE	8910	broad.mit.edu	37	7	94259115	94259115	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr7:94259115C>T	ENST00000265735.7	-	2	258	c.148G>A	c.(148-150)Gta>Ata	p.V50I	SGCE_ENST00000445866.2_Missense_Mutation_p.V50I|SGCE_ENST00000428696.2_Missense_Mutation_p.V50I|SGCE_ENST00000415788.2_Missense_Mutation_p.V86I|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000447873.1_Missense_Mutation_p.V50I	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	50					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)	p.V50I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GATGGGTATACATTCCGATCG	0.388																																					p.V50I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G148A	7						.						107.0	111.0	110.0					7																	94259115		2203	4300	6503	94097051	SO:0001583	missense	8910	exon2			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.148G>A	7.37:g.94259115C>T	ENSP00000265735:p.Val50Ile	Somatic		Capture	Illumina HiSeq	Phase_I	94097051	NM_003919	B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384855	0.95967	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47	5.51	5.51	0.81932	Dystroglycan-type cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.97791	0.9275	L	0.50333	1.59	0.80722	D	1	D;B;P;D	0.69078	0.997;0.416;0.925;0.967	D;P;P;D	0.70716	0.954;0.507;0.661;0.97	D	0.97840	1.0268	10	0.49607	T	0.09	-11.9725	19.7898	0.96452	0.0:1.0:0.0:0.0	.	86;50;50;50	B7Z2R4;E9PF60;G5E9K6;O43556	.;.;.;SGCE_HUMAN	I	50;50;50;50;86	ENSP00000265735:V50I;ENSP00000398930:V50I;ENSP00000388734:V50I;ENSP00000397536:V50I;ENSP00000405313:V86I	ENSP00000265735:V50I	V	-	1	0	SGCE	94097051	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.487000	0.81328	2.754000	0.94517	0.655000	0.94253	GTA		0.388	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2		
RP1L1	94137	broad.mit.edu	37	8	10468310	10468310	+	Missense_Mutation	SNP	C	C	T	rs201017740	byFrequency	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr8:10468310C>T	ENST00000382483.3	-	4	3521	c.3298G>A	c.(3298-3300)Gtg>Atg	p.V1100M		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1100					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.V1100M(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACTTCGGGCACGCTGCTGGGC	0.647													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17651	0.0		0.0	False		,,,				2504	0.0				p.V1100M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3298A	8						.	C	MET/VAL	3,3843		0,3,1920	44.0	51.0	49.0		3298	-2.2	0.4	8		49	2,8290		0,2,4144	yes	missense	RP1L1	NM_178857.5	21	0,5,6064	TT,TC,CC		0.0241,0.078,0.0412	benign	1100/2401	10468310	5,12133	1923	4146	6069	10505720	SO:0001583	missense	94137	exon4			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3298G>A	8.37:g.10468310C>T	ENSP00000371923:p.Val1100Met	Somatic		Capture	Illumina HiSeq	Phase_I	10505720	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	9.897	1.205899	0.22205	7.8E-4	2.41E-4	ENSG00000183638	ENST00000382483	T	0.78481	-1.18	4.73	-2.16	0.07080	.	0.644091	0.11913	N	0.517444	T	0.53433	0.1796	N	0.14661	0.345	0.09310	N	0.999999	B	0.16802	0.019	B	0.08055	0.003	T	0.39143	-0.9628	10	0.66056	D	0.02	-3.502	1.331	0.02135	0.219:0.3838:0.1405:0.2566	.	1100	A6NKC6	.	M	1100	ENSP00000371923:V1100M	ENSP00000371923:V1100M	V	-	1	0	RP1L1	10505720	0.987000	0.35691	0.377000	0.26055	0.678000	0.39670	0.369000	0.20416	-0.573000	0.05998	-2.419000	0.00218	GTG		0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
TRPS1	7227	broad.mit.edu	37	8	116599601	116599601	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr8:116599601C>G	ENST00000220888.5	-	4	2447	c.2288G>C	c.(2287-2289)aGt>aCt	p.S763T	TRPS1_ENST00000519674.1_Missense_Mutation_p.S763T|TRPS1_ENST00000395715.3_Missense_Mutation_p.S776T|TRPS1_ENST00000520276.1_Missense_Mutation_p.S767T|TRPS1_ENST00000519076.1_Missense_Mutation_p.S517T			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	763	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S763T(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTCACCACACTCTCAGAAAC	0.488									Langer-Giedion syndrome																												p.S776T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2327C	8						.						254.0	259.0	257.0					8																	116599601		1921	4135	6056	116668776	SO:0001583	missense	7227	exon5	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2288G>C	8.37:g.116599601C>G	ENSP00000220888:p.Ser763Thr	Somatic		Capture	Illumina HiSeq	Phase_I	116668776	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	10.32	1.318575	0.23994	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98455	-4.94;-4.92;-4.91;-4.92;0.9	5.67	3.77	0.43336	.	0.579589	0.19938	N	0.102718	D	0.95332	0.8485	L	0.29908	0.895	0.19945	N	0.999941	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	D	0.90379	0.4386	10	0.51188	T	0.08	.	13.0858	0.59140	0.0:0.7504:0.1798:0.0698	.	767;763;776	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	T	776;763;517;767;763	ENSP00000379065:S776T;ENSP00000220888:S763T;ENSP00000428910:S517T;ENSP00000428680:S767T;ENSP00000429174:S763T	ENSP00000220888:S763T	S	-	2	0	TRPS1	116668776	0.551000	0.26497	0.848000	0.33437	0.916000	0.54674	1.055000	0.30467	1.398000	0.46701	0.655000	0.94253	AGT		0.488	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
MYOM2	9172	broad.mit.edu	37	8	2054290	2054290	+	Silent	SNP	G	G	C	rs557796981		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr8:2054290G>C	ENST00000262113.4	+	23	3042	c.2901G>C	c.(2899-2901)ctG>ctC	p.L967L	MYOM2_ENST00000523438.1_Silent_p.L392L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	967	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.L967L(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCTCCAAGCTGTACTTAAAGA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		18037	0.0		0.0	False		,,,				2504	0.001				p.L967L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2901C	8						.						119.0	118.0	118.0					8																	2054290		2203	4300	6503	2041697	SO:0001819	synonymous_variant	9172	exon23				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2901G>C	8.37:g.2054290G>C		Somatic		Capture	Illumina HiSeq	Phase_I	2041697	NM_003970	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.433	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
PXDNL	137902	broad.mit.edu	37	8	52321594	52321594	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr8:52321594G>A	ENST00000356297.4	-	17	2690	c.2590C>T	c.(2590-2592)Cgc>Tgc	p.R864C	PXDNL_ENST00000543296.1_Missense_Mutation_p.R864C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	864					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R864C(1)|p.R63C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGCTGGAGCGCGCGAAGAGC	0.662																																					p.R864C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2590T	8						.						22.0	26.0	25.0					8																	52321594		2026	4158	6184	52484147	SO:0001583	missense	137902	exon17				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2590C>T	8.37:g.52321594G>A	ENSP00000348645:p.Arg864Cys	Somatic		Capture	Illumina HiSeq	Phase_I	52484147	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336473	0.24253	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.84800	-1.9;-1.9	3.31	0.304	0.15796	.	0.272281	0.26156	N	0.026002	D	0.94128	0.8117	H	0.99286	4.5	0.44123	D	0.996903	D	0.89917	1.0	D	0.91635	0.999	D	0.89382	0.3682	10	0.87932	D	0	.	4.8892	0.13719	0.22:0.1755:0.6045:0.0	.	864	A1KZ92	PXDNL_HUMAN	C	864	ENSP00000348645:R864C;ENSP00000444865:R864C	ENSP00000348645:R864C	R	-	1	0	PXDNL	52484147	1.000000	0.71417	0.029000	0.17559	0.003000	0.03518	2.981000	0.49329	-0.220000	0.09988	-0.898000	0.02899	CGC		0.662	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
ST3GAL1	6482	broad.mit.edu	37	8	134478210	134478210	+	Missense_Mutation	SNP	C	C	T	rs145826176		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr8:134478210C>T	ENST00000319914.5	-	5	1457	c.430G>A	c.(430-432)Gtt>Att	p.V144I	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.V144I|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.V144I|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.V144I			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	144					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.V144I(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TTGCCCACAACGGCGCAGCGC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18577	0.001		0.0	False		,,,				2504	0.0				p.V144I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G430A	8						.	C	ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	88.0	87.0	87.0		430,430	4.7	0.9	8	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ST3GAL1	NM_003033.3,NM_173344.2	29,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	144/341,144/341	134478210	3,13003	2203	4300	6503	134547392	SO:0001583	missense	6482	exon6			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.430G>A	8.37:g.134478210C>T	ENSP00000318445:p.Val144Ile	Somatic		Capture	Illumina HiSeq	Phase_I	134547392	NM_173344	O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	CCDS6373.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	C	22.9	4.343973	0.82022	4.54E-4	1.16E-4	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	L	0.60067	1.865	0.58432	D	0.999998	D	0.76494	0.999	P	0.60949	0.881	T	0.66114	-0.6004	10	0.52906	T	0.07	-26.9811	17.017	0.86422	0.0:1.0:0.0:0.0	.	144	Q11201	SIA4A_HUMAN	I	144;144;144;144;14;14	ENSP00000318445:V144I;ENSP00000414073:V144I;ENSP00000428540:V144I;ENSP00000430515:V144I;ENSP00000429638:V14I;ENSP00000427720:V14I	ENSP00000318445:V144I	V	-	1	0	ST3GAL1	134547392	1.000000	0.71417	0.871000	0.34182	0.448000	0.32197	7.776000	0.85560	2.328000	0.79073	0.561000	0.74099	GTT		0.572	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033	
DOCK8	81704	broad.mit.edu	37	9	396805	396805	+	Silent	SNP	C	C	T	rs190559109		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr9:396805C>T	ENST00000453981.1	+	25	3103	c.2991C>T	c.(2989-2991)caC>caT	p.H997H	DOCK8_ENST00000382329.1_Silent_p.H464H|DOCK8_ENST00000382331.1_Silent_p.H299H|DOCK8_ENST00000469391.1_Silent_p.H897H|DOCK8_ENST00000432829.2_Silent_p.H929H			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	997					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.H929H(1)|p.H997H(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGGCCCAGCACGTACATAACA	0.473													T|||	1	0.000199681	0.0	0.0	5008	,	,		18857	0.0		0.001	False		,,,				2504	0.0				p.H897H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2691T	9						.						185.0	173.0	177.0					9																	396805		2203	4300	6503	386805	SO:0001819	synonymous_variant	81704	exon23			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2991C>T	9.37:g.396805C>T		Somatic		Capture	Illumina HiSeq	Phase_I	386805	NM_001190458	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	CCDS6440.2																																																																																				0.473	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
CNTFR	1271	broad.mit.edu	37	9	34564744	34564744	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr9:34564744G>A	ENST00000378980.3	-	4	465	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	CNTFR_ENST00000351266.4_Missense_Mutation_p.R58W	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	58	Ig-like C2-type.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)	p.R58W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CCATTTACCCGCCACGTCACC	0.642																																					p.R58W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C172T	9						.						89.0	68.0	75.0					9																	34564744		2203	4300	6503	34554744	SO:0001583	missense	1271	exon4			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.172C>T	9.37:g.34564744G>A	ENSP00000368265:p.Arg58Trp	Somatic		Capture	Illumina HiSeq	Phase_I	34554744	NM_147164	Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	g	18.88	3.717380	0.68844	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.79940	-1.32;-1.32;2.09	5.26	-2.68	0.06041	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.219872	0.35646	N	0.003075	T	0.73613	0.3609	L	0.39898	1.24	0.36550	D	0.871816	D	0.67145	0.996	P	0.47864	0.559	T	0.78560	-0.2157	9	0.66056	D	0.02	.	12.243	0.54553	0.0:0.0978:0.1727:0.7295	.	58	P26992	CNTFR_HUMAN	W	58	ENSP00000368265:R58W;ENSP00000242338:R58W;ENSP00000388082:R58W	ENSP00000242338:R58W	R	-	1	2	CNTFR	34554744	0.968000	0.33430	0.981000	0.43875	0.808000	0.45660	0.359000	0.20233	-0.318000	0.08665	-0.353000	0.07706	CGG		0.642	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1		
RP11-498P14.3	0	broad.mit.edu	37	9	99961783	99961783	+	lincRNA	SNP	G	G	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr9:99961783G>T	ENST00000416066.1	-	0	0																		p.S4*(1)									TTTCTCTTCTGAAGTGTACAT	0.373																																					p.S4X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C11A	9						.						17.0	21.0	19.0					9																	99961783		1814	4085	5899	99001604			387328	exon1																															9.37:g.99961783G>T		Somatic		Capture	Illumina HiSeq	Phase_I	99001604	NM_199005		Nonsense_Mutation	SNP	ENST00000416066.1	37		.	.	.	.	.	.	.	.	.	.	N	2.541	-0.306203	0.05458	.	.	ENSG00000188801	ENST00000375210	.	.	.	.	.	.	.	0.333575	0.19252	N	0.118887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1079	2.6652	0.05046	0.5:0.0:0.5:0.0	.	.	.	.	X	4	.	.	S	-	2	0	ZNF322P1	99001604	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.341000	0.07811	-0.000000	0.14550	0.000000	0.15137	TCA		0.373	RP11-498P14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053307.1		
PRRC2B	84726	broad.mit.edu	37	9	134321992	134321992	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chr9:134321992A>G	ENST00000357304.4	+	6	873	c.818A>G	c.(817-819)tAc>tGc	p.Y273C	PRRC2B_ENST00000405995.1_Missense_Mutation_p.Y273C|PRRC2B_ENST00000372249.1_5'Flank|PRRC2B_ENST00000458550.1_Missense_Mutation_p.Y273C	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	273							poly(A) RNA binding (GO:0044822)	p.Y273C(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGAAATGTATACCACCCACCT	0.522																																					p.Y273C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A818G	9						.						110.0	104.0	106.0					9																	134321992		1935	4131	6066	133311813	SO:0001583	missense	84726	exon6			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.818A>G	9.37:g.134321992A>G	ENSP00000349856:p.Tyr273Cys	Somatic		Capture	Illumina HiSeq	Phase_I	133311813	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862022	0.71949	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.02472	4.28;4.6;4.28	5.09	5.09	0.68999	.	0.000000	0.32884	U	0.005532	T	0.10035	0.0246	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.13469	-1.0508	10	0.40728	T	0.16	0.0045	14.5005	0.67719	1.0:0.0:0.0:0.0	.	273	Q5JSZ5	PRC2B_HUMAN	C	273	ENSP00000384606:Y273C;ENSP00000349856:Y273C;ENSP00000398853:Y273C	ENSP00000349856:Y273C	Y	+	2	0	PRRC2B	133311813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.273000	0.89887	2.263000	0.75096	0.533000	0.62120	TAC		0.522	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
NXF5	55998	broad.mit.edu	37	X	101096065	101096065	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chrX:101096065G>C	ENST00000361708.2	-	8	762	c.403C>G	c.(403-405)Cgt>Ggt	p.R135G	NXF5_ENST00000537026.1_Missense_Mutation_p.R135G|NXF5_ENST00000473265.2_Missense_Mutation_p.R135G			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	135					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R135G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAATGTCACGGCCCATCAAG	0.522																																					p.R135G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403G	X						.						46.0	44.0	45.0					X																	101096065		1682	3371	5053	100982721	SO:0001583	missense	55998	exon8			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.403C>G	X.37:g.101096065G>C	ENSP00000355286:p.Arg135Gly	Somatic		Capture	Illumina HiSeq	Phase_I	100982721	NM_032946	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37		.	.	.	.	.	.	.	.	.	.	.	9.662	1.144431	0.21288	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.49432	0.78;0.78;0.78	2.05	-0.0758	0.13725	.	0.853793	0.10123	U	0.713154	T	0.24890	0.0604	N	0.14661	0.345	0.25305	N	0.989243	B	0.26809	0.16	B	0.24155	0.051	T	0.18272	-1.0342	10	0.46703	T	0.11	.	2.3696	0.04327	0.1942:0.0:0.5022:0.3036	.	135	A2RRM0	.	G	135	ENSP00000442401:R135G;ENSP00000426978:R135G;ENSP00000355286:R135G	ENSP00000263032:R135G	R	-	1	0	NXF5	100982721	0.943000	0.32029	0.002000	0.10522	0.047000	0.14425	2.655000	0.46707	-0.075000	0.12798	0.267000	0.19312	CGT		0.522	NXF5-201	KNOWN	basic	protein_coding	protein_coding			
SMC1A	8243	broad.mit.edu	37	X	53432008	53432008	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chrX:53432008C>A	ENST00000322213.4	-	13	2259	c.2132G>T	c.(2131-2133)cGg>cTg	p.R711L	SMC1A_ENST00000375340.6_Missense_Mutation_p.R477L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	711			R -> Q (in CDLS2). {ECO:0000269|PubMed:20358602}.|R -> W (in CDLS2). {ECO:0000269|PubMed:17273969, ECO:0000269|PubMed:19701948}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R711L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GTACTTGAGCCGCATCTGCAG	0.562																																					p.R711L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2132T	X						.						106.0	64.0	79.0					X																	53432008		2202	4299	6501	53448733	SO:0001583	missense	8243	exon13			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2132G>T	X.37:g.53432008C>A	ENSP00000323421:p.Arg711Leu	Somatic		Capture	Illumina HiSeq	Phase_I	53448733	NM_006306	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984991	0.93044	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	T;D	0.85773	-1.21;-2.03	5.01	5.01	0.66863	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.93200	0.7834	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.91635	0.931;0.995;0.999	D	0.94437	0.7655	10	0.87932	D	0	.	16.4876	0.84189	0.0:1.0:0.0:0.0	.	477;689;711	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	L	711;477	ENSP00000323421:R711L;ENSP00000364489:R477L	ENSP00000323421:R711L	R	-	2	0	SMC1A	53448733	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.598000	0.82745	2.235000	0.73313	0.600000	0.82982	CGG		0.562	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
FGD1	2245	broad.mit.edu	37	X	54476183	54476183	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chrX:54476183G>T	ENST00000375135.3	-	14	2790	c.2057C>A	c.(2056-2058)tCc>tAc	p.S686Y		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	686	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.S686Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAGGAGGGTGGAGTTGATGGC	0.502																																					p.S686Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2057A	X						.						128.0	120.0	122.0					X																	54476183		2203	4300	6503	54492908	SO:0001583	missense	2245	exon14			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2057C>A	X.37:g.54476183G>T	ENSP00000364277:p.Ser686Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	54492908	NM_004463	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	g	12.60	1.987724	0.35036	.	.	ENSG00000102302	ENST00000375135	D	0.87966	-2.32	5.56	4.7	0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (3);Zinc finger, FYVE/PHD-type (1);	0.451488	0.19265	N	0.118572	D	0.87337	0.6152	L	0.31926	0.97	0.33044	D	0.531819	B;P	0.39737	0.273;0.685	P;P	0.51266	0.532;0.664	D	0.90348	0.4364	10	0.66056	D	0.02	-14.2433	13.9483	0.64099	0.0:0.0:0.8466:0.1534	.	444;686	B4DS99;P98174	.;FGD1_HUMAN	Y	686	ENSP00000364277:S686Y	ENSP00000364277:S686Y	S	-	2	0	FGD1	54492908	1.000000	0.71417	0.997000	0.53966	0.087000	0.18053	4.159000	0.58157	1.126000	0.42016	-0.274000	0.10170	TCC		0.502	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463	
KLF8	11279	broad.mit.edu	37	X	56296651	56296651	+	Silent	SNP	G	G	A	rs146271748		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chrX:56296651G>A	ENST00000468660.1	+	5	1083	c.795G>A	c.(793-795)tcG>tcA	p.S265S	KLF8_ENST00000374928.3_Intron	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S265S(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GAGAAGAGTCGCTTGACTTGA	0.428																																					p.S265S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G795A	X						.	G	,	1,3834		0,1,1631,571	135.0	98.0	111.0		,795	-2.0	0.7	X	dbSNP_134	111	0,6728		0,0,2428,1872	no	intron,coding-synonymous	KLF8	NM_001159296.1,NM_007250.4	,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,	,265/360	56296651	1,10562	2203	4300	6503	56313376	SO:0001819	synonymous_variant	11279	exon5			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.795G>A	X.37:g.56296651G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56313376	NM_007250	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	ENST00000468660.1	37	CCDS14373.1																																																																																				0.428	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250	
MAGEE1	57692	broad.mit.edu	37	X	75650968	75650968	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chrX:75650968G>A	ENST00000361470.2	+	1	2923	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	882	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.R882H(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TTGAGTCAGCGCTATATAGAC	0.507																																					p.R882H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2645A	X						.						76.0	68.0	71.0					X																	75650968		2203	4300	6503	75567372	SO:0001583	missense	57692	exon1			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2645G>A	X.37:g.75650968G>A	ENSP00000354912:p.Arg882His	Somatic		Capture	Illumina HiSeq	Phase_I	75567372	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	14.64	2.595168	0.46318	.	.	ENSG00000198934	ENST00000361470	T	0.05199	3.48	2.52	1.57	0.23409	.	.	.	.	.	T	0.14098	0.0341	L	0.43757	1.38	0.23232	N	0.998073	D	0.89917	1.0	D	0.79784	0.993	T	0.12811	-1.0533	9	0.72032	D	0.01	.	5.5913	0.17303	0.0:0.0:0.6145:0.3855	.	882	Q9HCI5	MAGE1_HUMAN	H	882	ENSP00000354912:R882H	ENSP00000354912:R882H	R	+	2	0	MAGEE1	75567372	1.000000	0.71417	0.735000	0.30896	0.967000	0.64934	1.323000	0.33701	0.397000	0.25310	0.600000	0.82982	CGC		0.507	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
PCDH11X	27328	broad.mit.edu	37	X	91133056	91133056	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chrX:91133056C>T	ENST00000373094.1	+	2	2662	c.1817C>T	c.(1816-1818)aCg>aTg	p.T606M	PCDH11X_ENST00000373097.1_Missense_Mutation_p.T606M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T606M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T606M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T606M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T606M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T606M|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T606M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T606M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	606	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T606M(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCTGCAGTTACGCTCTCCATT	0.373																																					p.T606M	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1817T	X						.						27.0	24.0	25.0					X																	91133056		2195	4276	6471	91019712	SO:0001583	missense	27328	exon2			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1817C>T	X.37:g.91133056C>T	ENSP00000362186:p.Thr606Met	Somatic		Capture	Illumina HiSeq	Phase_I	91019712	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	8.154	0.787966	0.16258	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.35	3.53	0.40419	Cadherin (4);Cadherin-like (1);	0.050169	0.85682	D	0.000000	T	0.61375	0.2342	M	0.67517	2.055	0.38056	D	0.935935	D;P;D;D;D;D;D;D	0.76494	0.996;0.956;0.999;0.999;0.999;0.999;0.996;0.996	P;P;D;D;D;D;P;P	0.67900	0.891;0.851;0.924;0.924;0.924;0.954;0.857;0.784	T	0.64063	-0.6495	10	0.87932	D	0	.	8.4722	0.32993	0.1536:0.7639:0.0:0.0825	.	606;606;606;606;606;606;606;606	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	M	606	ENSP00000378746:T606M;ENSP00000362186:T606M;ENSP00000362189:T606M;ENSP00000355040:T606M;ENSP00000362180:T606M;ENSP00000423762:T606M;ENSP00000355105:T606M;ENSP00000384758:T606M;ENSP00000298274:T606M	ENSP00000298274:T606M	T	+	2	0	PCDH11X	91019712	1.000000	0.71417	0.936000	0.37596	0.040000	0.13550	3.037000	0.49775	0.419000	0.25927	0.415000	0.27848	ACG		0.373	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
GPR50	9248	broad.mit.edu	37	X	150345372	150345372	+	Missense_Mutation	SNP	G	G	A	rs375887607		TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3673-01A-01W-0900-09	TCGA-AA-3673-10A-01W-0900-09	g.chrX:150345372G>A	ENST00000218316.3	+	1	248	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	60					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.R60Q(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGCTCCGGAATTCTGGT	0.483																																					p.R60Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G179A	X						.	C	GLN/ARG	0,3240		0,0,1335,570	134.0	130.0	131.0		179	3.5	1.0	X		131	1,6429		0,1,2323,1782	no	missense	GPR50	NM_004224.3	43	0,1,3658,2352	AA,AG,GG,G		0.0156,0.0,0.0103	possibly-damaging	60/618	150345372	1,9669	1905	4106	6011	150096030	SO:0001583	missense	9248	exon1			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.179G>A	X.37:g.150345372G>A	ENSP00000218316:p.Arg60Gln	Somatic		Capture	Illumina HiSeq	Phase_I	150096030	NM_004224	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.538218	0.27475	0.0	1.56E-4	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.42131	0.98	4.4	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.367002	0.26708	N	0.022905	T	0.38401	0.1039	M	0.62154	1.92	0.28944	N	0.890819	P;P	0.44734	0.842;0.61	B;B	0.39805	0.213;0.31	T	0.39251	-0.9623	10	0.54805	T	0.06	0.2889	9.3733	0.38268	0.0:0.2123:0.7877:0.0	.	13;60	F5H1S3;Q13585	.;MTR1L_HUMAN	Q	13;60	ENSP00000218316:R60Q	ENSP00000218316:R60Q	R	+	2	0	GPR50	150096030	1.000000	0.71417	0.994000	0.49952	0.131000	0.20780	3.236000	0.51336	0.877000	0.35895	-0.701000	0.03672	CGG		0.483	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224	
