#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCC2	1244	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	101552068	101552068	+	Silent	SNP	A	A	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr10:101552068A>G	ENST00000370449.4	+	3	398	c.285A>G	c.(283-285)acA>acG	p.T95T	ABCC2_ENST00000370434.1_Silent_p.T95T|ABCC2_ENST00000496621.1_3'UTR	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	95					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GACAAGCCACAGTCCCTGCTG	0.468																																																	0													142.0	121.0	128.0					10																	101552068		2203	4300	6503	SO:0001819	synonymous_variant	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.285A>G	10.37:g.101552068A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	CCDS7484.1																																																																																				0.468	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1		NM_000392	
BOC	91653	broad.mit.edu	37	3	112993348	112993348	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr3:112993348C>G	ENST00000495514.1	+	9	2065	c.1361C>G	c.(1360-1362)tCa>tGa	p.S454*	BOC_ENST00000497495.1_3'UTR|BOC_ENST00000273395.4_Nonsense_Mutation_p.S454*|BOC_ENST00000355385.3_Nonsense_Mutation_p.S454*			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	454					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCCCCAACGTCAGTGGGGCCT	0.667																																																	0													32.0	34.0	33.0					3																	112993348		2203	4300	6503	SO:0001587	stop_gained	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1361C>G	3.37:g.112993348C>G	ENSP00000418663:p.Ser454*	Somatic		WXS	Illumina GAIIx	Phase_I	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Nonsense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	40	8.202006	0.98704	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	.	.	.	5.62	3.83	0.44106	.	0.547984	0.18791	N	0.131055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	11.6327	0.51185	0.0:0.8084:0.1244:0.0672	.	.	.	.	X	454	.	ENSP00000273395:S454X	S	+	2	0	BOC	114476038	0.021000	0.18746	0.001000	0.08648	0.003000	0.03518	2.836000	0.48183	0.738000	0.32606	0.563000	0.77884	TCA		0.667	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3		NM_033254	
C3orf70	285382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184801259	184801259	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr3:184801259T>C	ENST00000335012.2	-	2	479	c.289A>G	c.(289-291)Atc>Gtc	p.I97V		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	97										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GAGACTGAGATCTGAATGGTG	0.498																																																	0													76.0	78.0	78.0					3																	184801259		2203	4300	6503	SO:0001583	missense	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.289A>G	3.37:g.184801259T>C	ENSP00000334974:p.Ile97Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210064	0.58343	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.79	5.79	0.91817	.	0.063063	0.64402	D	0.000004	T	0.40645	0.1125	N	0.19112	0.55	0.45403	D	0.998386	P	0.38597	0.639	B	0.36959	0.237	T	0.39272	-0.9622	9	0.48119	T	0.1	.	15.8088	0.78538	0.0:0.0:0.0:1.0	.	97	A6NLC5	CC070_HUMAN	V	97	.	ENSP00000334974:I97V	I	-	1	0	C3orf70	186283953	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.284000	0.72652	2.207000	0.71202	0.533000	0.62120	ATC		0.498	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1		NM_001025266	
CARD10	29775	broad.mit.edu;ucsc.edu	37	22	37893039	37893039	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr22:37893039A>G	ENST00000403299.1	-	13	2150	c.1934T>C	c.(1933-1935)aTg>aCg	p.M645T	CARD10_ENST00000251973.5_Missense_Mutation_p.M645T|CARD10_ENST00000406271.3_Missense_Mutation_p.M359T			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	645					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TCTTGGTTCCATCCTGGCGGA	0.607																																																	0													117.0	122.0	120.0					22																	37893039		2203	4300	6503	SO:0001583	missense	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1934T>C	22.37:g.37893039A>G	ENSP00000384570:p.Met645Thr	Somatic		WXS	Illumina GAIIx	Phase_I	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	A	1.919	-0.448825	0.04572	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.38722	1.12;2.82;1.12;1.6	5.32	-6.51	0.01878	.	1.036440	0.07513	N	0.909282	T	0.23611	0.0571	L	0.28115	0.83	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.26052	-1.0114	10	0.33141	T	0.24	0.6691	6.7548	0.23507	0.1581:0.3049:0.537:0.0	.	645;359	Q9BWT7;Q8NC81	CAR10_HUMAN;.	T	645;359;645;286;117	ENSP00000384570:M645T;ENSP00000385799:M359T;ENSP00000251973:M645T;ENSP00000416239:M286T	ENSP00000251973:M645T	M	-	2	0	CARD10	36222985	0.001000	0.12720	0.000000	0.03702	0.495000	0.33615	-0.142000	0.10311	-0.767000	0.04633	-0.256000	0.11100	ATG		0.607	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1		NM_014550	
CCDC88B	283234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64111336	64111336	+	Silent	SNP	C	C	A	rs537311308		TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr11:64111336C>A	ENST00000356786.5	+	13	1449	c.1405C>A	c.(1405-1407)Cgg>Agg	p.R469R	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	469						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGGGAGAACCGGGAGCTTCG	0.687																																																	0													24.0	31.0	29.0					11																	64111336		2193	4289	6482	SO:0001819	synonymous_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1405C>A	11.37:g.64111336C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	CCDS8072.2																																																																																				0.687	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1		NM_032251	
CHAF1A	10036	broad.mit.edu;ucsc.edu	37	19	4433326	4433326	+	Silent	SNP	C	C	T			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr19:4433326C>T	ENST00000301280.5	+	13	2564	c.2463C>T	c.(2461-2463)caC>caT	p.H821H	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	821	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACGTGCACCCGCAGGTGC	0.612								Chromatin Structure																																									0													80.0	77.0	78.0					19																	4433326		2203	4300	6503	SO:0001819	synonymous_variant	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2463C>T	19.37:g.4433326C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	CCDS32875.1																																																																																				0.612	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2		NM_005483	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113392679	113392679	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr8:113392679G>A	ENST00000297405.5	-	38	6282	c.6038C>T	c.(6037-6039)aCa>aTa	p.T2013I	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1973I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1943I|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1909I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2013	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1973K(1)|p.T2013K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGGGGTATTGTTGTTCCTGA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	lung(2)											100.0	105.0	103.0					8																	113392679		2203	4295	6498	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6038C>T	8.37:g.113392679G>A	ENSP00000297405:p.Thr2013Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720984	0.89205	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.64	5.64	0.86602	CUB (5);	0.000000	0.64402	D	0.000001	T	0.33089	0.0851	L	0.35854	1.095	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.98;1.0	D;D;D	0.97110	0.999;0.983;1.0	T	0.01330	-1.1383	10	0.21540	T	0.41	.	19.2842	0.94065	0.0:0.0:1.0:0.0	.	1909;2013;1973	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	1973;2013;1283;1909;1943	ENSP00000345799:T1973I;ENSP00000297405:T2013I;ENSP00000341558:T1283I;ENSP00000412263:T1909I;ENSP00000343124:T1943I	ENSP00000297405:T2013I	T	-	2	0	CSMD3	113461855	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.553000	0.98118	2.654000	0.90174	0.591000	0.81541	ACA		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900	
DERL2	51009	hgsc.bcm.edu;ucsc.edu	37	17	5383897	5383897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr17:5383897delA	ENST00000158771.4	-	5	388	c.333delT	c.(331-333)tttfs	p.F111fs	DERL2_ENST00000571968.1_5'Flank|DERL2_ENST00000570848.1_Intron|DERL2_ENST00000572834.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	111					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						CAAACAGACCAAAAAGCTAGC	0.403																																																	0													76.0	83.0	80.0					17																	5383897		2203	4300	6503	SO:0001589	frameshift_variant	51009			BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"""Der1-like domain family, member 2"""			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.333delT	17.37:g.5383897delA	ENSP00000158771:p.Phe111fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9Y3A7	Frame_Shift_Del	DEL	ENST00000158771.4	37	CCDS11073.1																																																																																				0.403	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1		NM_016041	
DSCAML1	57453	broad.mit.edu	37	11	117299207	117299208	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr11:117299207_117299208delCT	ENST00000321322.6	-	33	6179_6180	c.6178_6179delAG	c.(6178-6180)agcfs	p.S2060fs	DSCAML1_ENST00000527706.1_Frame_Shift_Del_p.S1790fs	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2000					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGGGCAGCGCTGGGGGCGGTG	0.728																																																	0										9,3049		4,1,1524						-7.9	0.0			6	18,6762		7,4,3379	no	frameshift	DSCAML1	NM_020693.2		11,5,4903	A1A1,A1R,RR		0.2655,0.2943,0.2744				27,9811				SO:0001589	frameshift_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.6178_6179delAG	11.37:g.117299207_117299208delCT	ENSP00000315465:p.Ser2060fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Frame_Shift_Del	DEL	ENST00000321322.6	37	CCDS8384.1																																																																																				0.728	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693	
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56506875	56506875	+	Missense_Mutation	SNP	C	C	T	rs183335254		TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr6:56506875C>T	ENST00000361203.3	-	13	1271	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M	DST_ENST00000370754.5_Missense_Mutation_p.V600M|DST_ENST00000446842.2_Missense_Mutation_p.V96M|DST_ENST00000312431.6_Missense_Mutation_p.V422M|DST_ENST00000370769.4_Missense_Mutation_p.V422M|DST_ENST00000370788.2_Missense_Mutation_p.V422M|DST_ENST00000421834.2_Missense_Mutation_p.V422M|DST_ENST00000370765.6_Missense_Mutation_p.V96M|DST_ENST00000244364.6_Missense_Mutation_p.V96M|DST_ENST00000518935.1_Missense_Mutation_p.V96M			Q03001	DYST_HUMAN	dystonin	422					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAAACTGCACTCCTGATTCT	0.308																																																	0													85.0	80.0	82.0					6																	56506875		2203	4299	6502	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1264G>A	6.37:g.56506875C>T	ENSP00000354508:p.Val422Met	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	16.43	3.122067	0.56613	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.3	-1.15	0.09709	.	0.621714	0.13019	N	0.420231	D	0.83234	0.5210	N	0.24115	0.695	0.26979	N	0.965402	P;B;P;B;P;P;B;P;B;P	0.51537	0.664;0.244;0.933;0.244;0.935;0.579;0.323;0.946;0.244;0.939	B;B;B;B;B;B;B;P;B;P	0.55222	0.08;0.157;0.362;0.157;0.311;0.071;0.182;0.771;0.157;0.632	T	0.75602	-0.3261	9	0.46703	T	0.11	.	7.1151	0.25412	0.1755:0.1939:0.5584:0.0722	.	451;422;422;600;538;96;96;96;422;96	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	M	96;600;422;422;96;422;422;422;96;462;96;96;600	ENSP00000244364:V96M;ENSP00000359790:V600M;ENSP00000359805:V422M;ENSP00000400883:V422M;ENSP00000393645:V96M;ENSP00000307959:V422M;ENSP00000359824:V422M;ENSP00000354508:V422M;ENSP00000404924:V96M;ENSP00000431030:V462M;ENSP00000359801:V96M;ENSP00000431003:V96M;ENSP00000393082:V600M	ENSP00000244364:V96M	V	-	1	0	DST	56614834	0.943000	0.32029	0.413000	0.26509	0.989000	0.77384	1.599000	0.36751	0.055000	0.16094	0.585000	0.79938	GTG		0.308	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723	
EIF2A	83939	broad.mit.edu;ucsc.edu	37	3	150264607	150264607	+	Silent	SNP	G	G	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr3:150264607G>C	ENST00000460851.1	+	1	127	c.18G>C	c.(16-18)ccG>ccC	p.P6P	EIF2A_ENST00000273435.5_Silent_p.P6P|SERP1_ENST00000479209.1_5'UTR|SERP1_ENST00000491660.1_5'Flank|SERP1_ENST00000239944.2_5'Flank|SERP1_ENST00000487153.1_5'Flank|EIF2A_ENST00000406576.3_Silent_p.P6P|EIF2A_ENST00000487799.1_Silent_p.P6P			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	6					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGTCCACGCCGCTCTTGACAG	0.562																																																	0													85.0	92.0	90.0					3																	150264607		1851	4081	5932	SO:0001819	synonymous_variant	83939			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.18G>C	3.37:g.150264607G>C		Somatic		WXS	Illumina GAIIx	Phase_I	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Silent	SNP	ENST00000460851.1	37	CCDS46935.1																																																																																				0.562	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2		NM_032025	
FAM110C	642273	broad.mit.edu	37	2	46063	46063	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr2:46063T>A	ENST00000327669.4	-	1	322	c.323A>T	c.(322-324)gAa>gTa	p.E108V		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	108					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		TCGCACGAATTCGCATTTCTG	0.711																																																	0													25.0	27.0	26.0					2																	46063		1902	4093	5995	SO:0001583	missense	642273			DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.323A>T	2.37:g.46063T>A	ENSP00000328347:p.Glu108Val	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000327669.4	37	CCDS42645.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.032482	0.54790	.	.	ENSG00000184731	ENST00000327669	T	0.36340	1.26	4.05	2.83	0.33086	.	0.309721	0.33895	N	0.004449	T	0.23727	0.0574	N	0.14661	0.345	0.27164	N	0.961094	D	0.61697	0.99	P	0.48524	0.58	T	0.09465	-1.0673	10	0.87932	D	0	-11.3746	4.2933	0.10888	0.0:0.1111:0.2067:0.6822	.	108	Q1W6H9	F110C_HUMAN	V	108	ENSP00000328347:E108V	ENSP00000328347:E108V	E	-	2	0	FAM110C	36063	0.997000	0.39634	0.876000	0.34364	0.281000	0.26958	2.288000	0.43514	0.483000	0.27608	0.451000	0.29950	GAA		0.711	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1		NM_001077710	
FAM83H	286077	broad.mit.edu	37	8	144810219	144810219	+	Missense_Mutation	SNP	C	C	T	rs369438416		TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr8:144810219C>T	ENST00000388913.3	-	5	1537	c.1412G>A	c.(1411-1413)gGc>gAc	p.G471D		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	471					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCGAACAGGCCTTGCGGGCG	0.716																																																	0								C	ASP/GLY	0,4042		0,0,2021	23.0	33.0	30.0		1412	4.9	1.0	8		30	1,8299		0,1,4149	no	missense	FAM83H	NM_198488.3	94	0,1,6170	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	471/1180	144810219	1,12341	2021	4150	6171	SO:0001583	missense	286077			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1412G>A	8.37:g.144810219C>T	ENSP00000373565:p.Gly471Asp	Somatic		WXS	Illumina GAIIx	Phase_I	A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	N	16.91	3.251475	0.59212	0.0	1.2E-4	ENSG00000180921	ENST00000388913	T	0.24538	1.85	4.87	4.87	0.63330	.	0.220519	0.30003	U	0.010653	T	0.41858	0.1177	L	0.34521	1.04	0.44168	D	0.996973	D	0.89917	1.0	D	0.91635	0.999	T	0.37842	-0.9688	10	0.72032	D	0.01	.	16.9983	0.86375	0.0:1.0:0.0:0.0	.	471	Q6ZRV2	FA83H_HUMAN	D	471	ENSP00000373565:G471D	ENSP00000373565:G471D	G	-	2	0	FAM83H	144882207	0.992000	0.36948	1.000000	0.80357	0.529000	0.34654	2.847000	0.48270	2.234000	0.73211	0.555000	0.69702	GGC		0.716	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2		NM_198488	
GIMAP8	155038	hgsc.bcm.edu;ucsc.edu	37	7	150174278	150174278	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr7:150174278G>A	ENST00000307271.3	+	5	1982	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	470	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCGGCTCCGGGCCCAGCCAGT	0.597																																																	0													69.0	68.0	68.0					7																	150174278		2203	4300	6503	SO:0001583	missense	155038			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1408G>A	7.37:g.150174278G>A	ENSP00000305107:p.Ala470Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285170	0.59867	.	.	ENSG00000171115	ENST00000307271	T	0.28454	1.61	4.44	2.53	0.30540	AIG1 (1);	0.315980	0.22940	N	0.053793	T	0.35189	0.0923	L	0.27944	0.81	0.09310	N	1	D	0.69078	0.997	D	0.63113	0.911	T	0.12192	-1.0557	10	0.38643	T	0.18	.	10.4279	0.44389	0.0:0.387:0.613:0.0	.	470	Q8ND71	GIMA8_HUMAN	T	470	ENSP00000305107:A470T	ENSP00000305107:A470T	A	+	1	0	GIMAP8	149805211	0.000000	0.05858	0.017000	0.16124	0.016000	0.09150	-0.541000	0.06099	0.459000	0.27016	0.655000	0.94253	GCC		0.597	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1		NM_175571	
GRIK5	2901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42507514	42507514	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr19:42507514C>A	ENST00000262895.3	-	18	2483	c.2484G>T	c.(2482-2484)tgG>tgT	p.W828C	GRIK5_ENST00000301218.4_Missense_Mutation_p.W828C|GRIK5_ENST00000593562.1_Missense_Mutation_p.W828C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	828					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TCCGTGTGGACCATATGAATT	0.587																																																	0													82.0	71.0	75.0					19																	42507514		2203	4300	6503	SO:0001583	missense	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2484G>T	19.37:g.42507514C>A	ENSP00000262895:p.Trp828Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.32|19.32	3.805131|3.805131	0.70682|0.70682	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000454993|ENST00000262895;ENST00000301218	.|T;T	.|0.15372	.|2.44;2.43	4.16|4.16	4.16|4.16	0.48862|0.48862	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.39306|0.39306	0.1073|0.1073	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.32561|0.32561	-0.9902|-0.9902	5|10	.|0.87932	.|D	.|0	.|.	15.3734|15.3734	0.74584|0.74584	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|828	.|Q16478	.|GRIK5_HUMAN	F|C	205|828	.|ENSP00000262895:W828C;ENSP00000301218:W828C	.|ENSP00000262895:W828C	V|W	-|-	1|3	0|0	GRIK5|GRIK5	47199354|47199354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.309000|4.309000	0.59135|0.59135	2.136000|2.136000	0.66102|0.66102	0.561000|0.561000	0.74099|0.74099	GTC|TGG		0.587	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			
ITIH4	3700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52858939	52858939	+	Silent	SNP	G	G	A	rs375739396		TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr3:52858939G>A	ENST00000266041.4	-	7	891	c.795C>T	c.(793-795)ccC>ccT	p.P265P	ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Silent_p.P265P|ITIH4_ENST00000485816.1_Silent_p.P265P|ITIH4_ENST00000346281.5_Silent_p.P265P|ITIH4-AS1_ENST00000478366.1_RNA|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000434759.3_Silent_p.P177P	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	265					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TTAGGCCCTCGGGGGCAAAGT	0.557																																																	0													105.0	97.0	99.0					3																	52858939		2203	4300	6503	SO:0001819	synonymous_variant	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.795C>T	3.37:g.52858939G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	8.026	0.760638	0.15914	.	.	ENSG00000055955	ENST00000441637	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.3186	11.2919	0.49256	0.1948:0.0:0.5526:0.2526	.	.	.	.	X	123	.	.	R	-	1	2	ITIH4	52833979	0.000000	0.05858	0.023000	0.16930	0.929000	0.56500	-4.553000	0.00216	-2.847000	0.00332	-0.975000	0.02590	CGA		0.557	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1		NM_002218	
KLF8	11279	broad.mit.edu;hgsc.bcm.edu	37	X	56295819	56295819	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chrX:56295819G>C	ENST00000468660.1	+	4	943	c.655G>C	c.(655-657)Gac>Cac	p.D219H	KLF8_ENST00000374928.3_Missense_Mutation_p.D219H	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AGTGAAAGTTGACCCCACCTC	0.463																																																	0													107.0	82.0	91.0					X																	56295819		2203	4300	6503	SO:0001583	missense	11279			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.655G>C	X.37:g.56295819G>C	ENSP00000417303:p.Asp219His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181064	0.78677	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T	0.07021	3.23	4.65	4.65	0.58169	.	0.529703	0.19265	N	0.118570	T	0.20780	0.0500	M	0.65975	2.015	0.37213	D	0.904905	D;D	0.57571	0.98;0.957	P;P	0.55999	0.789;0.579	T	0.04870	-1.0921	10	0.72032	D	0.01	.	12.3552	0.55171	0.0:0.0:1.0:0.0	.	219;219	E7EQQ8;O95600	.;KLF8_HUMAN	H	219	ENSP00000417303:D219H	ENSP00000364063:D219H	D	+	1	0	KLF8	56312544	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	4.104000	0.57790	2.054000	0.61138	0.600000	0.82982	GAC		0.463	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2		NM_007250	
LINC00691	152024	broad.mit.edu	37	3	24138699	24138699	+	lincRNA	DEL	A	A	-	rs114699947	byFrequency	TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr3:24138699delA	ENST00000436123.1	-	0	2024									long intergenic non-protein coding RNA 691																		TTCATCTTTTACACAGCCCCT	0.418																																																	0																																												0					3p24.2	2012-11-13			ENSG00000224074	ENSG00000224074		"""Long non-coding RNAs"""	44514	non-coding RNA	RNA, long non-coding							Standard	NR_026834		Approved		uc003ccv.2		OTTHUMG00000155662		3.37:g.24138699delA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000436123.1	37																																																																																					0.418	LINC00691-003	KNOWN	mRNA_start_NF|basic	lincRNA	lincRNA	OTTHUMT00000341066.1			
MAGED1	9500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	51638670	51638670	+	Silent	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chrX:51638670G>A	ENST00000375722.1	+	3	819	c.567G>A	c.(565-567)aaG>aaA	p.K189K	MAGED1_ENST00000375695.2_Silent_p.K245K|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.K189K|MAGED1_ENST00000375772.3_Silent_p.K189K			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	189					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					ATACCACTAAGGCCCCAACAG	0.517										Multiple Myeloma(10;0.10)																																							0													62.0	52.0	55.0					X																	51638670		2203	4300	6503	SO:0001819	synonymous_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.567G>A	X.37:g.51638670G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	CCDS14337.1																																																																																				0.517	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1		NM_001005332	
MED24	9862	broad.mit.edu;ucsc.edu	37	17	38182523	38182523	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr17:38182523A>C	ENST00000394128.2	-	19	1952	c.1871T>G	c.(1870-1872)cTt>cGt	p.L624R	MED24_ENST00000501516.3_Missense_Mutation_p.L643R|MED24_ENST00000356271.3_Missense_Mutation_p.L611R|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394126.1_Missense_Mutation_p.L649R|MED24_ENST00000394127.2_Missense_Mutation_p.L611R	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	624					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GTGGGCCACAAGCCAAGCCAC	0.562																																																	0													163.0	145.0	151.0					17																	38182523		2203	4300	6503	SO:0001583	missense	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1871T>G	17.37:g.38182523A>C	ENSP00000377686:p.Leu624Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.185272	0.38609	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000501516;ENST00000431269	T;T;T	0.63417	-0.04;-0.04;-0.04	4.79	3.72	0.42706	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70988	0.3287	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.61080	0.989;0.989;0.971;0.977;0.989	P;P;P;P;P	0.62298	0.893;0.893;0.839;0.9;0.893	T	0.72320	-0.4329	10	0.87932	D	0	-11.0921	10.3932	0.44185	0.9229:0.0:0.0771:0.0	.	574;534;611;624;566	F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;MED24_HUMAN;.	R	624;624;624;574;611;566;95;534	ENSP00000377686:L624R;ENSP00000443344:L574R;ENSP00000377685:L611R	ENSP00000348610:L624R	L	-	2	0	MED24	35436049	1.000000	0.71417	0.812000	0.32479	0.996000	0.88848	9.131000	0.94446	0.859000	0.35456	0.533000	0.62120	CTT		0.562	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2		NM_014815	
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11177096	11177096	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr1:11177096C>T	ENST00000361445.4	-	50	7057	c.6981G>A	c.(6979-6981)atG>atA	p.M2327I	MTOR_ENST00000376838.1_Missense_Mutation_p.M532I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2327	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CAACCATTGACATGACCGCTA	0.383																																																	0													152.0	144.0	147.0					1																	11177096		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6981G>A	1.37:g.11177096C>T	ENSP00000354558:p.Met2327Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107034	0.94292	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.75477	-0.94;-0.94	5.69	5.69	0.88448	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.89262	0.6665	M	0.90425	3.115	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.90869	0.4744	10	0.87932	D	0	-22.7563	18.7966	0.91997	0.0:1.0:0.0:0.0	.	2327	P42345	MTOR_HUMAN	I	2327;532	ENSP00000354558:M2327I;ENSP00000366034:M532I	ENSP00000354558:M2327I	M	-	3	0	MTOR	11099683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.266000	0.78452	2.687000	0.91594	0.462000	0.41574	ATG		0.383	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
OR51B4	79339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5322438	5322438	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr11:5322438C>G	ENST00000380224.1	-	1	788	c.739G>C	c.(739-741)Gta>Cta	p.V247L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	247					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGAAATACTAGGACACAG	0.428																																																	0													98.0	89.0	92.0					11																	5322438		2201	4297	6498	SO:0001583	missense	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.739G>C	11.37:g.5322438C>G	ENSP00000369573:p.Val247Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090866	0.20471	.	.	ENSG00000183251	ENST00000380224	T	0.00017	9.1	4.25	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000677	T	0.00109	0.0003	N	0.21373	0.66	0.21184	N	0.999769	P	0.50272	0.933	P	0.53102	0.718	T	0.55121	-0.8190	10	0.22109	T	0.4	.	5.2699	0.15618	0.2043:0.6921:0.0:0.1036	.	247	Q9Y5P0	O51B4_HUMAN	L	247	ENSP00000369573:V247L	ENSP00000369573:V247L	V	-	1	0	OR51B4	5279014	0.000000	0.05858	0.977000	0.42913	0.811000	0.45836	-1.611000	0.02062	2.197000	0.70478	0.655000	0.94253	GTA		0.428	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2		NM_033179	
OR2AT4	341152	broad.mit.edu;ucsc.edu	37	11	74800063	74800063	+	Silent	SNP	G	G	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr11:74800063G>C	ENST00000305159.3	-	1	736	c.696C>G	c.(694-696)cgC>cgG	p.R232R		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGGAACTGATGCGAAGCACTG	0.577																																																	0													48.0	46.0	47.0					11																	74800063		2200	4293	6493	SO:0001819	synonymous_variant	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.696C>G	11.37:g.74800063G>C		Somatic		WXS	Illumina GAIIx	Phase_I	B9EGZ8	Silent	SNP	ENST00000305159.3	37	CCDS31639.1																																																																																				0.577	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1		NM_001005285	
PAFAH1B1	5048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	2570313	2570313	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr17:2570313G>A	ENST00000397195.5	+	5	671	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AAAGCTAAATGAAGCAAAAGA	0.368																																																	0													56.0	55.0	55.0					17																	2570313		2203	4300	6503	SO:0001583	missense	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.220G>A	17.37:g.2570313G>A	ENSP00000380378:p.Glu74Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000397195.5	37	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965139	0.74131	.	.	ENSG00000007168	ENST00000397195	D	0.82893	-1.66	4.87	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.80899	0.4712	M	0.79805	2.47	0.80722	D	1	P	0.38420	0.63	B	0.36186	0.219	T	0.77308	-0.2636	10	0.14252	T	0.57	.	12.4831	0.55856	0.0821:0.0:0.9179:0.0	.	74	P43034	LIS1_HUMAN	K	74	ENSP00000380378:E74K	ENSP00000380378:E74K	E	+	1	0	PAFAH1B1	2517063	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.775000	0.98995	1.174000	0.42811	-0.237000	0.12165	GAA		0.368	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2		NM_000430	
PCDHGA1	56114	broad.mit.edu;ucsc.edu	37	5	140712672	140712672	+	Splice_Site	SNP	G	G	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr5:140712672G>C	ENST00000517417.1	+	1	2421	c.2421G>C	c.(2419-2421)caG>caC	p.Q807H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.Q807H	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	807					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTTCTCAGGTAAACTTTT	0.388																																																	0													52.0	56.0	54.0					5																	140712672		2203	4300	6503	SO:0001630	splice_region_variant	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2421+1G>C	5.37:g.140712672G>C		Somatic		WXS	Illumina GAIIx	Phase_I	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	11.82	1.751313	0.31046	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	D;T	0.95205	-3.64;0.76	4.15	4.15	0.48705	.	0.202382	0.23321	N	0.049452	D	0.96390	0.8822	M	0.86573	2.825	0.21950	N	0.999452	P;P	0.47910	0.836;0.902	P;P	0.52217	0.693;0.547	D	0.91965	0.5582	10	0.62326	D	0.03	.	15.7324	0.77817	0.0:0.0:1.0:0.0	.	807;807	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	H	807	ENSP00000431083:Q807H;ENSP00000367345:Q807H	ENSP00000367345:Q807H	Q	+	3	2	PCDHGA1	140692856	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	3.721000	0.54941	2.298000	0.77334	0.591000	0.81541	CAG		0.388	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1		NM_018912	Missense_Mutation
PCNX	22990	broad.mit.edu;ucsc.edu	37	14	71462632	71462632	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr14:71462632C>G	ENST00000304743.2	+	8	3065	c.2619C>G	c.(2617-2619)caC>caG	p.H873Q	PCNX_ENST00000238570.5_Missense_Mutation_p.H873Q|PCNX_ENST00000439984.3_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	873						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCAGTTTGCACGATGAACTTG	0.433																																																	0													122.0	101.0	108.0					14																	71462632		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2619C>G	14.37:g.71462632C>G	ENSP00000304192:p.His873Gln	Somatic		WXS	Illumina GAIIx	Phase_I	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576048	0.28092	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	T;T	0.21734	1.99;1.99	5.4	-1.23	0.09465	.	0.098488	0.64402	N	0.000001	T	0.06142	0.0159	N	0.03324	-0.35	0.40762	D	0.98301	B	0.02656	0.0	B	0.04013	0.001	T	0.27331	-1.0077	10	0.25751	T	0.34	.	2.7295	0.05223	0.216:0.4772:0.1056:0.2013	.	873	Q96RV3	PCX1_HUMAN	Q	873	ENSP00000304192:H873Q;ENSP00000238570:H873Q	ENSP00000238570:H873Q	H	+	3	2	PCNX	70532385	0.974000	0.33945	0.996000	0.52242	0.994000	0.84299	0.107000	0.15375	-0.107000	0.12088	-0.150000	0.13652	CAC		0.433	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1		NM_014982	
PER2	8864	broad.mit.edu;ucsc.edu	37	2	239181739	239181739	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr2:239181739A>T	ENST00000254657.3	-	5	821	c.542T>A	c.(541-543)gTt>gAt	p.V181D	PER2_ENST00000355768.2_Missense_Mutation_p.V181D|PER2_ENST00000440245.1_Missense_Mutation_p.V181D|PER2_ENST00000254658.3_Missense_Mutation_p.V181D	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	181	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CTCAGAGGTAACGCTCTCCAT	0.542																																																	0													119.0	95.0	103.0					2																	239181739		2203	4300	6503	SO:0001583	missense	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.542T>A	2.37:g.239181739A>T	ENSP00000254657:p.Val181Asp	Somatic		WXS	Illumina GAIIx	Phase_I	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.991153	0.35131	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.50001	2.73;0.76;1.83;0.76	4.81	-0.683	0.11335	PAS (1);	0.605862	0.16688	N	0.203679	T	0.49949	0.1587	L	0.46157	1.445	0.09310	N	1	P;P;P;P	0.52170	0.951;0.93;0.951;0.859	P;P;P;B	0.55871	0.576;0.543;0.786;0.439	T	0.46034	-0.9220	10	0.87932	D	0	-2.4278	8.6584	0.34077	0.6658:0.0:0.3342:0.0	.	181;181;181;181	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	D	181	ENSP00000254657:V181D;ENSP00000254658:V181D;ENSP00000397516:V181D;ENSP00000348013:V181D	ENSP00000254657:V181D	V	-	2	0	PER2	238846478	0.918000	0.31147	0.001000	0.08648	0.010000	0.07245	3.298000	0.51818	-0.280000	0.09154	0.533000	0.62120	GTT		0.542	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1		NM_022817	
PLA2G6	8398	broad.mit.edu	37	22	38516843	38516843	+	Silent	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr22:38516843G>A	ENST00000332509.3	-	12	1848	c.1665C>T	c.(1663-1665)taC>taT	p.Y555Y	PLA2G6_ENST00000335539.3_Silent_p.Y501Y|PLA2G6_ENST00000490473.1_5'Flank|PLA2G6_ENST00000402064.1_Silent_p.Y501Y	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	555	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GCCCCGACTCGTAGGGCCTGG	0.617																																																	0													83.0	85.0	85.0					22																	38516843		2203	4300	6503	SO:0001819	synonymous_variant	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1665C>T	22.37:g.38516843G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	ENST00000332509.3	37	CCDS13967.1																																																																																				0.617	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1		NM_001004426	
PLEKHA6	22874	broad.mit.edu;ucsc.edu	37	1	204236640	204236640	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr1:204236640C>A	ENST00000272203.3	-	5	559	c.243G>T	c.(241-243)tgG>tgT	p.W81C	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.W81C	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	81	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCAGGACGAACCAGCGCTTGT	0.587																																																	0													115.0	87.0	97.0					1																	204236640		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.243G>T	1.37:g.204236640C>A	ENSP00000272203:p.Trp81Cys	Somatic		WXS	Illumina GAIIx	Phase_I	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234900	0.79800	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.27402	1.67;1.67	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87066	0.2156	10	0.87932	D	0	-18.7037	19.0239	0.92925	0.0:1.0:0.0:0.0	.	81	Q9Y2H5	PKHA6_HUMAN	C	81	ENSP00000272203:W81C;ENSP00000402046:W81C	ENSP00000272203:W81C	W	-	3	0	PLEKHA6	202503263	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.334000	0.72944	2.580000	0.87095	0.549000	0.68633	TGG		0.587	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3		NM_014935	
QRFPR	84109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	122250674	122250674	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr4:122250674T>C	ENST00000394427.2	-	6	1502	c.1091A>G	c.(1090-1092)aAt>aGt	p.N364S	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	364					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AATTCCTGAATTTCCATGCCT	0.368																																																	0													162.0	160.0	161.0					4																	122250674		2203	4300	6503	SO:0001583	missense	84109			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1091A>G	4.37:g.122250674T>C	ENSP00000377948:p.Asn364Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	T	7.955	0.745809	0.15710	.	.	ENSG00000186867	ENST00000394427	T	0.71934	-0.61	4.43	0.326	0.15908	.	0.464741	0.23852	N	0.043936	T	0.46521	0.1397	N	0.20986	0.625	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.22068	-1.0227	10	0.09338	T	0.73	.	6.2055	0.20600	0.0:0.15:0.1346:0.7154	.	364	Q96P65	QRFPR_HUMAN	S	364	ENSP00000377948:N364S	ENSP00000377948:N364S	N	-	2	0	QRFPR	122470124	0.749000	0.28305	0.000000	0.03702	0.183000	0.23260	1.076000	0.30729	-0.012000	0.14223	0.260000	0.18958	AAT		0.368	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2		NM_198179	
SF3A2	8175	broad.mit.edu	37	19	2245452	2245452	+	Silent	SNP	C	C	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr19:2245452C>A	ENST00000221494.5	+	5	671	c.253C>A	c.(253-255)Cga>Aga	p.R85R		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	85					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCCCGGCGAGCAGCCAA	0.667																																																	0													20.0	26.0	24.0					19																	2245452		1695	3131	4826	SO:0001819	synonymous_variant	8175			L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.253C>A	19.37:g.2245452C>A		Somatic		WXS	Illumina GAIIx	Phase_I	B2RBU1|D6W605|O75245	Silent	SNP	ENST00000221494.5	37	CCDS12084.1																																																																																				0.667	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A	rs199733185		TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617																																					GBM(155;1668 1920 5945 42733 48121)												1	Substitution - Missense(1)	lung(1)											67.0	60.0	62.0					20																	1902301		2203	4296	6499	SO:0001583	missense	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.697G>A	20.37:g.1902301G>A	ENSP00000351621:p.Val233Ile	Somatic		WXS	Illumina GAIIx	Phase_I	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382458	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02863	4.13;4.13;4.13	4.86	-7.7	0.01259	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.216010	0.01765	N	0.030825	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.008	B;B;B	0.12156	0.002;0.007;0.006	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.8982	0.63785	0.7446:0.0:0.2554:0.0	.	213;233;233	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	233	ENSP00000382941:V233I;ENSP00000348307:V233I;ENSP00000351621:V233I	ENSP00000348307:V233I	V	+	1	0	SIRPA	1850301	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-2.041000	0.01415	-1.573000	0.01659	-0.355000	0.07637	GTC		0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2		NM_080792	
STAT5B	6777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40371847	40371847	+	Silent	SNP	C	C	T			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr17:40371847C>T	ENST00000293328.3	-	6	732	c.564G>A	c.(562-564)ccG>ccA	p.P188P		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	188					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCTGGGCCAGCGGGCCAAACT	0.642																																																	0													39.0	42.0	41.0					17																	40371847		2203	4300	6503	SO:0001819	synonymous_variant	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.564G>A	17.37:g.40371847C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8WWS8	Silent	SNP	ENST00000293328.3	37	CCDS11423.1																																																																																				0.642	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1		NM_012448	
ST6GALNAC1	55808	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74622132	74622132	+	Silent	SNP	C	C	T			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr17:74622132C>T	ENST00000156626.7	-	7	1660	c.1461G>A	c.(1459-1461)agG>agA	p.R487R	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	487					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCAACAGGTACCTGTCCATGT	0.557																																																	0													177.0	172.0	174.0					17																	74622132		2203	4300	6503	SO:0001819	synonymous_variant	55808			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1461G>A	17.37:g.74622132C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406824	0.25378	.	.	ENSG00000070526	ENST00000359088	T	0.23348	1.91	5.28	-10.6	0.00265	.	.	.	.	.	T	0.12987	0.0315	.	.	.	0.41003	D	0.984946	.	.	.	.	.	.	T	0.33727	-0.9857	6	0.09843	T	0.71	-10.8981	10.3201	0.43760	0.0707:0.6518:0.0709:0.2066	.	.	.	.	I	453	ENSP00000351991:V453I	ENSP00000351991:V453I	V	-	1	0	ST6GALNAC1	72133727	0.000000	0.05858	0.003000	0.11579	0.863000	0.49368	-2.280000	0.01158	-3.219000	0.00212	-0.290000	0.09829	GTA		0.557	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1		NM_018414	
THEM5	284486	broad.mit.edu	37	1	151820746	151820746	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr1:151820746C>G	ENST00000368817.5	-	4	618	c.487G>C	c.(487-489)Gca>Cca	p.A163P	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	163					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCATGGCTGCCAGGGACCCG	0.587																																																	0													45.0	46.0	46.0					1																	151820746		2203	4300	6503	SO:0001583	missense	284486			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.487G>C	1.37:g.151820746C>G	ENSP00000357807:p.Ala163Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	CCDS1005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.10|19.10	3.762430|3.762430	0.69763|0.69763	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000368817|ENST00000453881	T|.	0.25579|.	1.79|.	5.42|5.42	2.53|2.53	0.30540|0.30540	Thioesterase superfamily (1);|.	0.175991|.	0.48767|.	D|.	0.000163|.	T|T	0.59307|0.59307	0.2184|0.2184	M|M	0.89601|0.89601	3.045|3.045	0.35288|0.35288	D|D	0.78197|0.78197	D|.	0.58970|.	0.984|.	P|.	0.54815|.	0.761|.	T|T	0.61481|0.61481	-0.7054|-0.7054	10|5	0.62326|.	D|.	0.03|.	-15.5083|-15.5083	4.8491|4.8491	0.13528|0.13528	0.1704:0.6523:0.0:0.1774|0.1704:0.6523:0.0:0.1774	.|.	163|.	Q8N1Q8|.	THEM5_HUMAN|.	P|C	163|109	ENSP00000357807:A163P|.	ENSP00000357807:A163P|.	A|W	-|-	1|3	0|0	THEM5|THEM5	150087370|150087370	0.976000|0.976000	0.34144|0.34144	0.996000|0.996000	0.52242|0.52242	0.882000|0.882000	0.50991|0.50991	1.050000|1.050000	0.30404|0.30404	0.268000|0.268000	0.21939|0.21939	0.655000|0.655000	0.94253|0.94253	GCA|TGG		0.587	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2		NM_182578	
TLL2	7093	broad.mit.edu;ucsc.edu	37	10	98133425	98133425	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr10:98133425T>G	ENST00000357947.3	-	19	2815	c.2590A>C	c.(2590-2592)Agc>Cgc	p.S864R		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	864	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AACATACTGCTGCCGGAAGCC	0.587																																																	0													67.0	69.0	68.0					10																	98133425		2203	4300	6503	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2590A>C	10.37:g.98133425T>G	ENSP00000350630:p.Ser864Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671067	0.88348	.	.	ENSG00000095587	ENST00000357947	T	0.36157	1.27	4.85	4.85	0.62838	CUB (5);	0.127829	0.35870	N	0.002927	T	0.37019	0.0988	L	0.31845	0.965	0.46631	D	0.999134	P	0.40970	0.734	P	0.46208	0.507	T	0.30060	-0.9991	10	0.87932	D	0	.	14.0598	0.64793	0.0:0.0:0.0:1.0	.	864	Q9Y6L7	TLL2_HUMAN	R	864	ENSP00000350630:S864R	ENSP00000350630:S864R	S	-	1	0	TLL2	98123415	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.825000	0.86693	2.163000	0.67991	0.459000	0.35465	AGC		0.587	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			
TRIM21	6737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4411235	4411235	+	Silent	SNP	G	G	A			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr11:4411235G>A	ENST00000254436.7	-	2	517	c.405C>T	c.(403-405)taC>taT	p.Y135Y	TRIM21_ENST00000543625.1_Silent_p.Y135Y	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	135					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GCCTCACCTGGTACTCCTGTG	0.562																																																	0													41.0	42.0	42.0					11																	4411235		1982	4174	6156	SO:0001819	synonymous_variant	6737			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.405C>T	11.37:g.4411235G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5XPV5|Q96RF8	Silent	SNP	ENST00000254436.7	37	CCDS44525.1																																																																																				0.562	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1		NM_003141	
TDRD12	91646	broad.mit.edu	37	19	33317138	33317140	+	IGR	DEL	TTC	TTC	-	rs542693314		TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr19:33317138_33317140delTTC								TDRD12 (4969 upstream) : SLC7A9 (4274 downstream)																							GCGCAGGTCTTTCTTCTTCTAGC	0.433																																																	0																																										SO:0001628	intergenic_variant	0																															19.37:g.33317144_33317146delTTC		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL		37																																																																																				0	0.433									
USP48	84196	broad.mit.edu;ucsc.edu	37	1	22032266	22032266	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3347-01A-02D-1386-10	TCGA-A3-3347-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f4a6bd7-16ff-4689-b41d-c5fabb87823b	faae36b9-3b70-4f6c-bc9b-45dbf2114b52	g.chr1:22032266C>G	ENST00000308271.9	-	19	2986	c.2338G>C	c.(2338-2340)Ggc>Cgc	p.G780R	USP48_ENST00000374732.3_Missense_Mutation_p.G318R|USP48_ENST00000400301.1_Missense_Mutation_p.G780R|USP48_ENST00000529637.1_Missense_Mutation_p.G792R	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	780	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AACATGAGGCCCCCGTGGGGA	0.403																																																	0													64.0	69.0	67.0					1																	22032266		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2338G>C	1.37:g.22032266C>G	ENSP00000309262:p.Gly780Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635646	0.87760	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T	0.05199	3.53;3.51;3.48	5.7	5.7	0.88788	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.994;1.0	D;D;D;P;D	0.97110	0.999;0.944;0.995;0.88;1.0	T	0.00155	-1.1980	10	0.54805	T	0.06	.	18.8179	0.92085	0.0:1.0:0.0:0.0	.	792;780;780;780;318	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	R	780;780;318;792	ENSP00000383157:G780R;ENSP00000309262:G780R;ENSP00000431949:G792R	ENSP00000309262:G780R	G	-	1	0	USP48	21904853	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.994000	0.76251	2.697000	0.92050	0.557000	0.71058	GGC		0.403	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1		NM_032236	
