#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ADH4	127	broad.mit.edu	37	4	100062705	100062705	+	Silent	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:100062705G>T	ENST00000265512.7	-	3	323	c.249C>A	c.(247-249)acC>acA	p.T83T	ADH4_ENST00000504581.1_5'Flank|ADH4_ENST00000508393.1_Silent_p.T102T|ADH4_ENST00000423445.1_Silent_p.T102T|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Silent_p.T102T	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	83					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GTTTGACGTTGGTCACTCCTG	0.398																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(304-306)acC>acA		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						78.0	70.0	73.0					4																	100062705		2203	4300	6503	SO:0001819	synonymous_variant	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100062705G>T	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.249C>A	4.37:g.100062705G>T						ADH4_ENST00000423445.1_Silent_p.T102T|ADH4_ENST00000265512.7_Silent_p.T83T|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Silent_p.T102T	p.T102T			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	4	471	-			83					A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	ENST00000265512.7	37	c.306C>A	CCDS34032.1																																																																																				0.398	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		21	42	1	0	0.00395357	1	0.00412362	21	42				
NOTCH3	4854	broad.mit.edu	37	19	15302992	15302992	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr19:15302992C>T	ENST00000263388.2	-	4	533	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	153	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.		Missing (in CADASIL). {ECO:0000269|PubMed:10854111, ECO:0000269|PubMed:16009764}.|R -> C (in CADASIL). {ECO:0000269|PubMed:10371548, ECO:0000269|PubMed:10854111, ECO:0000269|PubMed:11102981, ECO:0000269|PubMed:11755616, ECO:0000269|PubMed:15229130, ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764, ECO:0000269|PubMed:9388399}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCGGCAGCTGCGGCCCTGGTA	0.687																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(457-459)cGc>cAc		notch 3							19.0	22.0	21.0					19																	15302992		2198	4294	6492	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15302992C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.458G>A	19.37:g.15302992C>T	ENSP00000263388:p.Arg153His						p.R153H	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		4	533	-			153		Missing (in CADASIL).|R -> C (in CADASIL).	EGF-like 3.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.458G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222533	0.39300	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.91686	-2.89	4.87	3.81	0.43845	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.87337	0.6152	L	0.35414	1.06	0.31049	N	0.715497	B;B	0.29766	0.166;0.256	B;B	0.29785	0.037;0.107	D	0.84204	0.0452	9	0.42905	T	0.14	.	12.5121	0.56011	0.0:0.9155:0.0:0.0844	.	156;153	Q59FL3;Q9UM47	.;NOTC3_HUMAN	H	153;155	ENSP00000263388:R153H	ENSP00000263388:R153H	R	-	2	0	NOTCH3	15163992	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.500000	0.35682	1.012000	0.39366	0.558000	0.71614	CGC		0.687	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		12	23	0	0	0	1	0	12	23				
MIR380	494329	broad.mit.edu	37	14	101488430	101488430	+	RNA	SNP	G	G	A	rs115827677	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:101488430G>A	ENST00000362112.2	-	0	111				MIR299_ENST00000385016.2_RNA|MIR379_ENST00000362218.3_RNA|MIR411_ENST00000362239.2_RNA	NR_029872.1				microRNA 380																		GAACGTAGGCGTTATGATTTC	0.517													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22117	0.0		0.0	False		,,,				2504	0.0					ENST00000362218.3																			0																				140.0	127.0	131.0					14																	101488430		1568	3582	5150			494328							g.chr14:101488430G>A			14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101488430G>A								NR_029871.1						0	65	+									RNA	SNP	ENST00000362112.2	37																																																																																						0.517	MIR380-201	KNOWN	basic	miRNA	miRNA		NR_029872		4	36	0	0	0	1	0	4	36				
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		102	Substitution - Missense(102)	p.E17K(102)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130.0	93.0	106.0					14																	105246551		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K	p.E17K			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	1529	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		8	19	0	0	0	1	0	8	19				
PHIP	55023	broad.mit.edu	37	6	79697996	79697996	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:79697996C>T	ENST00000275034.4	-	21	2557	c.2390G>A	c.(2389-2391)cGt>cAt	p.R797H		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	797					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.R797H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGATCTTGTACGATAATTGTG	0.338																																						ENST00000275034.4																			1	Substitution - Missense(1)	p.R797H(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(2389-2391)cGt>cAt		pleckstrin homology domain interacting protein							175.0	165.0	168.0					6																	79697996		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79697996C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2390G>A	6.37:g.79697996C>T	ENSP00000275034:p.Arg797His						p.R797H	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	21	2557	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	797					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.2390G>A	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453945	0.63290	.	.	ENSG00000146247	ENST00000275034	T	0.43294	0.95	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000001	T	0.19525	0.0469	L	0.41236	1.265	0.50467	D	0.999879	B;B	0.19331	0.035;0.035	B;B	0.08055	0.003;0.003	T	0.04103	-1.0977	9	.	.	.	-11.4115	15.0893	0.72180	0.0:1.0:0.0:0.0	.	797;797	A7J992;Q8WWQ0	.;PHIP_HUMAN	H	797	ENSP00000275034:R797H	.	R	-	2	0	PHIP	79754715	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	2.902000	0.48703	2.296000	0.77279	0.585000	0.79938	CGT		0.338	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			5	101	0	0	0	1	0	5	101				
LIPG	9388	broad.mit.edu	37	18	47110036	47110036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr18:47110036G>A	ENST00000261292.4	+	8	1546	c.1268G>A	c.(1267-1269)tGg>tAg	p.W423*	LIPG_ENST00000427224.2_Nonsense_Mutation_p.W349*	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	423	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCTCAGTCTTGGTACAACCTG	0.582																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1267-1269)tGg>tAg		lipase, endothelial							81.0	74.0	76.0					18																	47110036		2203	4300	6503	SO:0001587	stop_gained	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47110036G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1268G>A	18.37:g.47110036G>A	ENSP00000261292:p.Trp423*					LIPG_ENST00000427224.2_Nonsense_Mutation_p.W349*	p.W423*	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			8	1546	+			423			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Nonsense_Mutation	SNP	ENST00000261292.4	37	c.1268G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	40	7.985335	0.98596	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6841	19.6229	0.95667	0.0:0.0:1.0:0.0	.	.	.	.	X	423;349	.	ENSP00000261292:W423X	W	+	2	0	LIPG	45364034	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	6.553000	0.73918	2.648000	0.89879	0.561000	0.74099	TGG		0.582	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		24	73	0	0	0	1	0	24	73				
MLF2	8079	broad.mit.edu	37	12	6859160	6859160	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:6859160C>T	ENST00000203630.5	-	7	1057	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000542154.1_Missense_Mutation_p.R138Q|MLF2_ENST00000435120.1_Missense_Mutation_p.R138Q|MLF2_ENST00000539187.1_Missense_Mutation_p.R138Q			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	138					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						AACAGTCCTCCGTGTCTCCCG	0.582																																						ENST00000203630.5																			0				kidney(2)|large_intestine(3)|lung(4)	9						c.(412-414)cGg>cAg		myeloid leukemia factor 2							103.0	79.0	87.0					12																	6859160		2203	4300	6503	SO:0001583	missense	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6859160C>T	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.413G>A	12.37:g.6859160C>T	ENSP00000203630:p.Arg138Gln					MLF2_ENST00000539187.1_Missense_Mutation_p.R138Q|MLF2_ENST00000542154.1_Missense_Mutation_p.R138Q|MLF2_ENST00000435120.1_Missense_Mutation_p.R138Q	p.R138Q			Q15773	MLF2_HUMAN			7	1057	-			138						Missense_Mutation	SNP	ENST00000203630.5	37	c.413G>A	CCDS8559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.195347|5.195347	0.94960|0.94960	.|.	.|.	ENSG00000089693|ENSG00000089693	ENST00000537126|ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.114289	.|0.64402	.|D	.|0.000017	T|T	0.76314|0.76314	0.3970|0.3970	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.72982	.|0.979	T|T	0.75822|0.75822	-0.3182|-0.3182	6|9	0.87932|0.59425	D|D	0|0.04	.|.	20.1237|20.1237	0.97972|0.97972	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|138	.|Q15773	.|MLF2_HUMAN	R|Q	149|138	.|.	ENSP00000439789:G149R|ENSP00000203630:R138Q	G|R	-|-	1|2	0|0	MLF2|MLF2	6729421|6729421	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	4.483000|4.483000	0.60264|0.60264	2.759000|2.759000	0.94783|0.94783	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.582	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			15	64	0	0	0	1	0	15	64				
PTCHD3	374308	broad.mit.edu	37	10	27702649	27702649	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:27702649C>T	ENST00000438700.3	-	1	648	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	177					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCGCCTTGGCCGGGCTCCCCA	0.637																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(529-531)ccG>ccA		patched domain containing 3							96.0	107.0	103.0					10																	27702649		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702649C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.531G>A	10.37:g.27702649C>T							p.P177P	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	648	-			177					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.531G>A	CCDS31173.1																																																																																				0.637	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		44	150	0	0	0	1	0	44	150				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		8	34	0	0	0	1	0	8	34				
MPL	4352	broad.mit.edu	37	1	43804269	43804269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:43804269G>A	ENST00000372470.3	+	3	311	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	MPL_ENST00000413998.2_Missense_Mutation_p.R90Q	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	90					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	TTTGGAACCCGATACGTGTGC	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	ENST00000372470.3			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567						c.(268-270)cGa>cAa		myeloproliferative leukemia virus oncogene							113.0	98.0	103.0					1																	43804269		2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43804269G>A	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.269G>A	1.37:g.43804269G>A	ENSP00000361548:p.Arg90Gln					MPL_ENST00000413998.2_Missense_Mutation_p.R90Q	p.R90Q	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN			3	311	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	90					Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.269G>A	CCDS483.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987773	0.53934	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	T;T	0.69685	-0.42;-0.42	5.59	4.68	0.58851	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.131328	0.51477	N	0.000083	T	0.78861	0.4350	M	0.73598	2.24	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.69491	-0.5131	10	0.36615	T	0.2	-8.7946	10.5558	0.45117	0.0892:0.0:0.9108:0.0	.	83;90;90	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	Q	90	ENSP00000361548:R90Q;ENSP00000414004:R90Q	ENSP00000361546:R90Q	R	+	2	0	MPL	43576856	0.731000	0.28111	0.040000	0.18447	0.403000	0.30841	3.493000	0.53266	1.367000	0.46095	0.557000	0.71058	CGA		0.572	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		23	84	0	0	0	1	0	23	84				
UCHL3	7347	broad.mit.edu	37	13	76134943	76134943	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr13:76134943A>G	ENST00000377595.3	+	3	139	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	37					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		TGTATATGGAATGGATCCTGA	0.338																																						ENST00000377595.3																			0				kidney(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(109-111)Atg>Gtg		ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)							119.0	107.0	111.0					13																	76134943		2203	4300	6503	SO:0001583	missense	7347				ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	g.chr13:76134943A>G	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.109A>G	13.37:g.76134943A>G	ENSP00000366819:p.Met37Val					RP11-29G8.3_ENST00000563635.1_RNA	p.M37V	NM_001270952.1|NM_006002.3	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0125)	3	139	+			37					B2R970|Q5TBK8|Q6IBE9	Missense_Mutation	SNP	ENST00000377595.3	37	c.109A>G	CCDS9453.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129019	0.56721	.	.	ENSG00000118939	ENST00000377595	T	0.52295	0.67	5.81	5.81	0.92471	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	.	.	.	.	T	0.38692	0.1050	L	0.33485	1.01	0.35110	D	0.766031	B	0.25351	0.124	B	0.25405	0.06	T	0.51188	-0.8737	9	0.72032	D	0.01	.	11.2847	0.49216	0.864:0.0:0.0:0.136	.	37	P15374	UCHL3_HUMAN	V	37	ENSP00000366819:M37V	ENSP00000366819:M37V	M	+	1	0	UCHL3	75032944	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.670000	0.54569	2.217000	0.71921	0.482000	0.46254	ATG		0.338	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002		25	75	0	0	0	1	0	25	75				
CROCCP2	84809	broad.mit.edu	37	1	16957319	16957319	+	lincRNA	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:16957319C>T	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCACCCCCACCTGGAGGGCGC	0.667																																						ENST00000412962.1																			0																																																			84809							g.chr1:16957319C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16957319C>T														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.667	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	5	0	0	0	1	0	3	5				
CNTNAP5	129684	broad.mit.edu	37	2	125204332	125204332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:125204332G>T	ENST00000431078.1	+	6	1100	c.736G>T	c.(736-738)Gac>Tac	p.D246Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	246	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCACAGGTGACAGCAAAGC	0.567																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(736-738)Gac>Tac		contactin associated protein-like 5							42.0	46.0	45.0					2																	125204332		2128	4260	6388	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204332G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.736G>T	2.37:g.125204332G>T	ENSP00000399013:p.Asp246Tyr						p.D246Y	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1100	+			246			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.736G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814913	0.70912	.	.	ENSG00000155052	ENST00000431078	T	0.79749	-1.3	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.128508	0.34828	N	0.003659	D	0.91068	0.7189	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.91413	0.5152	10	0.87932	D	0	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	246	Q8WYK1	CNTP5_HUMAN	Y	246	ENSP00000399013:D246Y	ENSP00000399013:D246Y	D	+	1	0	CNTNAP5	124920802	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	9.628000	0.98415	2.941000	0.99782	0.655000	0.94253	GAC		0.567	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			15	53	1	0	1.67942e-08	1	1.81004e-08	15	53				
OR4N4	283694	broad.mit.edu	37	15	22383350	22383350	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:22383350A>G	ENST00000328795.4	+	1	969	c.878A>G	c.(877-879)gAa>gGa	p.E293G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CGCAACCAGGAAGTGAAAACT	0.408																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(877-879)gAa>gGa		olfactory receptor, family 4, subfamily N, member 4							85.0	79.0	81.0					15																	22383350		2188	4257	6445	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383350A>G	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.878A>G	15.37:g.22383350A>G	ENSP00000332500:p.Glu293Gly					RP11-69H14.6_ENST00000558896.1_RNA	p.E293G	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	969	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	293					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.878A>G	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	14.96	2.691080	0.48097	.	.	ENSG00000183706	ENST00000328795	T	0.40225	1.04	3.2	3.2	0.36748	.	0.000000	0.48767	D	0.000176	T	0.52419	0.1733	M	0.65975	2.015	0.40296	D	0.978553	D	0.58620	0.983	P	0.55871	0.786	T	0.58691	-0.7592	10	0.87932	D	0	-4.6842	9.7407	0.40416	1.0:0.0:0.0:0.0	.	293	Q8N0Y3	OR4N4_HUMAN	G	293	ENSP00000332500:E293G	ENSP00000332500:E293G	E	+	2	0	OR4N4	19884714	1.000000	0.71417	0.995000	0.50966	0.274000	0.26718	6.382000	0.73167	1.454000	0.47793	0.332000	0.21555	GAA		0.408	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			16	140	0	0	0	1	0	16	140				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	63	0	0	0	1	0	5	63				
ZNF845	91664	broad.mit.edu	37	19	53854765	53854765	+	Silent	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr19:53854765C>A	ENST00000595091.1	+	5	1056	c.837C>A	c.(835-837)acC>acA	p.T279T	ZNF845_ENST00000458035.1_Silent_p.T279T			Q96IR2	ZN845_HUMAN	zinc finger protein 845	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTGGCAAGACCTTCAGTCAGG	0.423																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(835-837)acC>acA		zinc finger protein 845							101.0	83.0	88.0					19																	53854765		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854765C>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.837C>A	19.37:g.53854765C>A						ZNF845_ENST00000595091.1_Silent_p.T279T	p.T279T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	954	+			279						Silent	SNP	ENST00000595091.1	37	c.837C>A	CCDS46170.1																																																																																				0.423	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		18	58	1	0	2.48551e-13	1	2.7712e-13	18	58				
DOK3	79930	broad.mit.edu	37	5	176935517	176935517	+	Silent	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:176935517C>A	ENST00000357198.4	-	3	265	c.261G>T	c.(259-261)ctG>ctT	p.L87L	DOK3_ENST00000312943.6_Silent_p.L31L|DOK3_ENST00000501403.2_Silent_p.L31L|DOK3_ENST00000377112.4_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	87	PH.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CTGCATACAGCAGAGCCCACA	0.677																																						ENST00000312943.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13						c.(91-93)ctG>ctT		docking protein 3							11.0	14.0	13.0					5																	176935517		2193	4289	6482	SO:0001819	synonymous_variant	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176935517C>A	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.261G>T	5.37:g.176935517C>A						DOK3_ENST00000501403.2_Silent_p.L31L|DOK3_ENST00000357198.4_Silent_p.L87L|DOK3_ENST00000377112.4_Intron	p.L31L	NM_001144875.1	NP_001138347.1	Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		3	253	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	87					E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	ENST00000357198.4	37	c.93G>T	CCDS4426.1																																																																																				0.677	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		3	11	1	0	0.150653	1	0.150653	3	11				
KLF10	7071	broad.mit.edu	37	8	103664557	103664557	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:103664557C>T	ENST00000285407.6	-	2	405	c.105G>A	c.(103-105)gaG>gaA	p.E35E	KLF10_ENST00000395884.3_Silent_p.E24E	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	35					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AATCACTTTTCTCTGCAGTTT	0.358																																					Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000395884.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.(70-72)gaG>gaA		Kruppel-like factor 10							139.0	140.0	139.0					8																	103664557		2203	4300	6503	SO:0001819	synonymous_variant	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103664557C>T	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.105G>A	8.37:g.103664557C>T						KLF10_ENST00000285407.6_Silent_p.E35E	p.E24E	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		2	974	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		35					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Silent	SNP	ENST00000285407.6	37	c.72G>A	CCDS6294.1																																																																																				0.358	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			53	130	0	0	0	1	0	53	130				
TIE1	7075	broad.mit.edu	37	1	43777409	43777409	+	Silent	SNP	G	G	A	rs199811076	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:43777409G>A	ENST00000372476.3	+	10	1480	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P	TIE1_ENST00000433781.2_Silent_p.P112P	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	467	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTCTCCCCGCTGGTCTCGT	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17593	0.0		0.0	False		,,,				2504	0.0					ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1399-1401)ccG>ccA		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							60.0	58.0	59.0					1																	43777409		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43777409G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1401G>A	1.37:g.43777409G>A						TIE1_ENST00000433781.2_Silent_p.P112P	p.P467P	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			10	1480	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	467			Fibronectin type-III 1.		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1401G>A	CCDS482.1																																																																																				0.647	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		23	60	0	0	0	1	0	23	60				
CCHCR1	54535	broad.mit.edu	37	6	31112526	31112526	+	Missense_Mutation	SNP	C	C	T	rs111409280		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:31112526C>T	ENST00000376266.5	-	15	1960	c.1838G>A	c.(1837-1839)cGg>cAg	p.R613Q	CCHCR1_ENST00000396268.3_Missense_Mutation_p.R702Q|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R560Q|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R666Q	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	613					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GAGTTGCTCCCGCAGCCGAGT	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18670	0.0		0.0	False		,,,				2504	0.0					ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(2104-2106)cGg>cAg		coiled-coil alpha-helical rod protein 1		C	GLN/ARG,GLN/ARG,GLN/ARG	7,4399	12.9+/-30.5	0,7,2196	143.0	147.0	146.0		1997,2105,1838	3.1	0.5	6	dbSNP_132	146	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	CCHCR1	NM_001105563.1,NM_001105564.1,NM_019052.3	43,43,43	0,10,6493	TT,TC,CC		0.0349,0.1589,0.0769	probably-damaging,probably-damaging,probably-damaging	666/836,702/872,613/783	31112526	10,12996	2203	4300	6503	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31112526C>T	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1838G>A	6.37:g.31112526C>T	ENSP00000365442:p.Arg613Gln					CCHCR1_ENST00000451521.2_Missense_Mutation_p.R666Q|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R560Q|CCHCR1_ENST00000376266.5_Missense_Mutation_p.R613Q	p.R702Q	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			15	2293	-			613					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.2105G>A	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041985	0.55003	0.001589	3.49E-4	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	4.96	3.11	0.35812	.	0.910388	0.09123	N	0.845437	T	0.09555	0.0235	M	0.67953	2.075	0.24276	N	0.995229	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;P;D;D	0.68621	0.943;0.959;0.752;0.928;0.934	T	0.23476	-1.0187	10	0.18276	T	0.48	-13.0498	7.1222	0.25450	0.0:0.7776:0.0:0.2224	.	613;613;613;666;702	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	Q	702;613;560;613;666	ENSP00000379566:R702Q;ENSP00000365442:R613Q;ENSP00000379561:R560Q;ENSP00000401039:R666Q	ENSP00000365442:R613Q	R	-	2	0	CCHCR1	31220505	1.000000	0.71417	0.506000	0.27664	0.840000	0.47671	2.873000	0.48475	0.455000	0.26910	0.448000	0.29417	CGG		0.597	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		53	106	0	0	0	1	0	53	106				
PAQR6	79957	broad.mit.edu	37	1	156214599	156214599	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:156214599G>T	ENST00000292291.5	-	7	871	c.713C>A	c.(712-714)gCc>gAc	p.A238D	PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_Missense_Mutation_p.A214D|PAQR6_ENST00000540423.1_Missense_Mutation_p.A235D|PAQR6_ENST00000356983.2_Missense_Mutation_p.A132D|PAQR6_ENST00000335852.1_Missense_Mutation_p.A132D	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	238						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CAGGTGGGAGGCGAAGAGGAA	0.672																																					GBM(16;219 398 12385 32425 38531)	ENST00000335852.1																			0				lung(4)|ovary(1)	5						c.(394-396)gCc>gAc		progestin and adipoQ receptor family member VI							44.0	46.0	45.0					1																	156214599		2203	4300	6503	SO:0001583	missense	79957					integral to membrane	receptor activity	g.chr1:156214599G>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.713C>A	1.37:g.156214599G>T	ENSP00000292291:p.Ala238Asp					PAQR6_ENST00000292291.5_Missense_Mutation_p.A238D|PAQR6_ENST00000360733.2_Missense_Mutation_p.A132D|PAQR6_ENST00000540423.1_Missense_Mutation_p.A235D|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_Missense_Mutation_p.A214D|PAQR6_ENST00000356983.2_Missense_Mutation_p.A132D	p.A132D	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN			6	1010	-	Hepatocellular(266;0.158)		238					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.395C>A	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270338	0.95429	.	.	ENSG00000160781	ENST00000292291;ENST00000360733;ENST00000335852;ENST00000356983;ENST00000340183;ENST00000368270;ENST00000540423	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34	4.88	4.88	0.63580	.	0.306644	0.35805	N	0.002976	T	0.58977	0.2160	M	0.86953	2.85	0.53005	D	0.999967	P;D;P	0.76494	0.741;0.999;0.741	P;D;P	0.75484	0.756;0.986;0.756	T	0.66642	-0.5872	10	0.87932	D	0	-25.3717	15.5739	0.76359	0.0:0.0:1.0:0.0	.	235;132;238	B7Z9R9;Q6TCH4-2;Q6TCH4	.;.;PAQR6_HUMAN	D	238;132;132;132;257;214;235	ENSP00000292291:A238D;ENSP00000353961:A132D;ENSP00000338330:A132D;ENSP00000349474:A132D;ENSP00000341926:A257D;ENSP00000357253:A214D;ENSP00000443167:A235D	ENSP00000292291:A238D	A	-	2	0	PAQR6	154481223	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.461000	0.97646	2.538000	0.85594	0.462000	0.41574	GCC		0.672	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		15	42	1	0	0.00400662	1	0.0041345	15	42				
KRT83	3889	broad.mit.edu	37	12	52710276	52710276	+	Silent	SNP	G	G	A	rs143467763	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:52710276G>A	ENST00000293670.3	-	6	1079	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	339	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCCACCTCGGCTGTCAGCC	0.597													N|||	6	0.00119808	0.0	0.0	5008	,	,		18637	0.0		0.001	False		,,,				2504	0.0051				GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(1015-1017)gcC>gcT		keratin 83		G		2,4404	4.2+/-10.8	0,2,2201	110.0	93.0	99.0		1017	-0.3	0.9	12	dbSNP_134	99	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	KRT83	NM_002282.3		0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461		339/494	52710276	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52710276G>A	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1017C>T	12.37:g.52710276G>A							p.A339A	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1079	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		339			Coil 2.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	ENST00000293670.3	37	c.1017C>T	CCDS8823.1																																																																																				0.597	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		33	50	0	0	0	1	0	33	50				
SUPT6H	6830	broad.mit.edu	37	17	27015218	27015218	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:27015218C>T	ENST00000314616.6	+	24	3399	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	SUPT6H_ENST00000347486.4_Missense_Mutation_p.T1039M	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1039	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAGATCGACACGGCCTCCCTG	0.577																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3115-3117)aCg>aTg		suppressor of Ty 6 homolog (S. cerevisiae)							126.0	117.0	120.0					17																	27015218		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27015218C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3116C>T	17.37:g.27015218C>T	ENSP00000319104:p.Thr1039Met					SUPT6H_ENST00000347486.4_Missense_Mutation_p.T1039M	p.T1039M	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			24	3399	+	Lung NSC(42;0.00431)		1039					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3116C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783945	0.70222	.	.	ENSG00000109111	ENST00000314616	.	.	.	4.95	4.95	0.65309	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83475	0.0061	9	0.35671	T	0.21	-9.408	18.5664	0.91118	0.0:1.0:0.0:0.0	.	1039	Q7KZ85	SPT6H_HUMAN	M	1039	.	ENSP00000319104:T1039M	T	+	2	0	SUPT6H	24039345	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.256000	0.78350	2.473000	0.83533	0.650000	0.86243	ACG		0.577	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		54	168	0	0	0	1	0	54	168				
CBX8	57332	broad.mit.edu	37	17	77769025	77769025	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:77769025C>T	ENST00000269385.4	-	5	696	c.579G>A	c.(577-579)ggG>ggA	p.G193G	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	193					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCGAGCTGTCCCCCGGTGAGC	0.662																																						ENST00000269385.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(577-579)ggG>ggA		chromobox homolog 8							53.0	40.0	44.0					17																	77769025		2203	4300	6503	SO:0001819	synonymous_variant	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77769025C>T	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.579G>A	17.37:g.77769025C>T							p.G193G	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	696	-			193					Q96H39|Q9NR07	Silent	SNP	ENST00000269385.4	37	c.579G>A	CCDS11765.1																																																																																				0.662	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		3	19	0	0	0	1	0	3	19				
OR51G1	79324	broad.mit.edu	37	11	4944867	4944867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:4944867C>A	ENST00000321961.2	-	1	770	c.703G>T	c.(703-705)Gag>Tag	p.E235*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGAGTCGCTCCTGGTGGGAG	0.552																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(703-705)Gag>Tag		olfactory receptor, family 51, subfamily G, member 1							138.0	107.0	117.0					11																	4944867		2201	4298	6499	SO:0001587	stop_gained	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944867C>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.703G>T	11.37:g.4944867C>A	ENSP00000322546:p.Glu235*					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.E235*	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	770	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	235					B9EGW8|Q6IFH6	Nonsense_Mutation	SNP	ENST00000321961.2	37	c.703G>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793371	0.31685	.	.	ENSG00000176879	ENST00000321961	.	.	.	4.53	2.65	0.31530	.	0.000000	0.39759	U	0.001278	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.3201	0.21213	0.0:0.6717:0.1548:0.1735	.	.	.	.	X	235	.	ENSP00000322546:E235X	E	-	1	0	OR51G1	4901443	0.000000	0.05858	0.269000	0.24586	0.108000	0.19459	0.757000	0.26433	0.542000	0.28846	-0.266000	0.10368	GAG		0.552	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		26	68	1	0	3.69857e-22	1	4.22072e-22	26	68				
UBE4A	9354	broad.mit.edu	37	11	118263536	118263536	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:118263536G>A	ENST00000431736.2	+	19	3093	c.3021G>A	c.(3019-3021)ctG>ctA	p.L1007L	UBE4A_ENST00000252108.3_Silent_p.L1000L|UBE4A_ENST00000545354.1_Silent_p.L472L					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGAGCACACTGATGTGTGACC	0.483																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(2998-3000)ctG>ctA		ubiquitination factor E4A							199.0	179.0	186.0					11																	118263536		2200	4296	6496	SO:0001819	synonymous_variant	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118263536G>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3021G>A	11.37:g.118263536G>A						UBE4A_ENST00000431736.2_Silent_p.L1007L|UBE4A_ENST00000545354.1_Silent_p.L472L	p.L1000L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	19	3131	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	1000			U-box.			Silent	SNP	ENST00000431736.2	37	c.3000G>A	CCDS8396.1																																																																																				0.483	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		56	86	0	0	0	1	0	56	86				
ZCCHC8	55596	broad.mit.edu	37	12	122975114	122975114	+	Splice_Site	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:122975114C>T	ENST00000336229.4	-	4	448	c.318G>A	c.(316-318)aaG>aaA	p.K106K	ZCCHC8_ENST00000543897.1_5'UTR|SNORA9_ENST00000516383.1_RNA|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	106					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GATGATATTGCCTGTGTAAGA	0.328																																						ENST00000336229.4																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.e4-1		zinc finger, CCHC domain containing 8							46.0	43.0	44.0					12																	122975114		1813	4076	5889	SO:0001630	splice_region_variant	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122975114C>T	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.318-1G>A	12.37:g.122975114C>T						ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	p.K106_splice	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	4	448	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		106					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Splice_Site	SNP	ENST00000336229.4	37	c.317_splice																																																																																					0.328	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	Silent	5	10	0	0	0	1	0	5	10				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			28611							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		4	34	0	0	0	1	0	4	34				
IFNGR1	3459	broad.mit.edu	37	6	137527279	137527279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:137527279G>A	ENST00000367739.4	-	3	488	c.367C>T	c.(367-369)Cga>Tga	p.R123*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.R95*|IFNGR1_ENST00000367735.2_Nonsense_Mutation_p.R113*|IFNGR1_ENST00000478333.1_5'Flank	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	123					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TCACCATCTCGGCATACAGCA	0.348																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(367-369)Cga>Tga		interferon gamma receptor 1	Interferon gamma-1b(DB00033)						103.0	100.0	101.0					6																	137527279		2203	4300	6503	SO:0001587	stop_gained	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137527279G>A		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.367C>T	6.37:g.137527279G>A	ENSP00000356713:p.Arg123*					IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.R95*|IFNGR1_ENST00000367735.2_Nonsense_Mutation_p.R113*	p.R123*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	3	488	-	Colorectal(23;0.24)		123					B4DFT7|E1P587|Q53Y96	Nonsense_Mutation	SNP	ENST00000367739.4	37	c.367C>T	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953742	0.34471	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076;ENST00000367735;ENST00000414770	.	.	.	5.67	-11.3	0.00108	.	0.976147	0.08408	N	0.950396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.7541	14.6163	0.68552	0.0:0.1159:0.2051:0.6789	.	.	.	.	X	123;123;95;89;113;113	.	ENSP00000356709:R113X	R	-	1	2	IFNGR1	137568972	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-4.153000	0.00284	-2.245000	0.00705	-0.182000	0.12963	CGA		0.348	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			7	118	0	0	0	1	0	7	118				
C2orf16	84226	broad.mit.edu	37	2	27804538	27804538	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:27804538G>A	ENST00000408964.2	+	1	5150	c.5099G>A	c.(5098-5100)aGg>aAg	p.R1700K	ZNF512_ENST00000379717.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1700	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTCTCAGAGGAGCCATCGT	0.587																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5098-5100)aGg>aAg		chromosome 2 open reading frame 16							151.0	154.0	153.0					2																	27804538		1917	4131	6048	SO:0001583	missense	84226							g.chr2:27804538G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5099G>A	2.37:g.27804538G>A	ENSP00000386190:p.Arg1700Lys						p.R1700K	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5150	+	Acute lymphoblastic leukemia(172;0.155)		1700			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5099G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503090	0.26949	.	.	ENSG00000221843	ENST00000408964	T	0.05139	3.49	2.59	1.7	0.24286	.	.	.	.	.	T	0.06962	0.0177	M	0.65498	2.005	0.09310	N	1	B	0.32071	0.355	B	0.27380	0.079	T	0.31696	-0.9934	9	0.32370	T	0.25	.	4.4179	0.11465	0.3174:0.0:0.6826:0.0	.	1700	Q68DN1	CB016_HUMAN	K	1700	ENSP00000386190:R1700K	ENSP00000386190:R1700K	R	+	2	0	C2orf16	27658042	0.034000	0.19679	0.003000	0.11579	0.002000	0.02628	0.614000	0.24314	0.643000	0.30638	0.462000	0.41574	AGG		0.587	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		8	237	0	0	0	1	0	8	237				
LRP6	4040	broad.mit.edu	37	12	12334328	12334328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:12334328C>T	ENST00000261349.4	-	6	1098	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	LRP6_ENST00000543091.1_Missense_Mutation_p.R341H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	341	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R341H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAAAGAAATGCGTCTCAAGTC	0.403																																						ENST00000261349.4																			1	Substitution - Missense(1)	p.R341H(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(1021-1023)cGc>cAc		low density lipoprotein receptor-related protein 6							103.0	98.0	100.0					12																	12334328		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12334328C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1022G>A	12.37:g.12334328C>T	ENSP00000261349:p.Arg341His					LRP6_ENST00000543091.1_Missense_Mutation_p.R341H	p.R341H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			6	1098	-		Prostate(47;0.0865)	341			Beta-propeller 2.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1022G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287494	0.59976	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91631	-2.88;-2.88	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000010	D	0.91482	0.7311	M	0.77712	2.385	0.58432	D	0.999999	B;B	0.29378	0.012;0.243	B;B	0.23419	0.005;0.046	D	0.88708	0.3220	10	0.15499	T	0.54	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	341;341	F5H7J9;O75581	.;LRP6_HUMAN	H	341	ENSP00000261349:R341H;ENSP00000442472:R341H	ENSP00000261349:R341H	R	-	2	0	LRP6	12225595	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	3.699000	0.54778	2.752000	0.94435	0.655000	0.94253	CGC		0.403	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			34	81	0	0	0	1	0	34	81				
SMYD4	114826	broad.mit.edu	37	17	1704289	1704289	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:1704289C>T	ENST00000305513.7	-	5	566	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	133							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ACCCATGTGTCTGTGCTCTGT	0.443																																						ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(397-399)caG>caA		SET and MYND domain containing 4							143.0	145.0	144.0					17																	1704289		2203	4300	6503	SO:0001819	synonymous_variant	114826						zinc ion binding	g.chr17:1704289C>T	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.399G>A	17.37:g.1704289C>T							p.Q133Q	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			5	566	-			133					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	c.399G>A	CCDS11013.1																																																																																				0.443	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		53	155	0	0	0	1	0	53	155				
SMARCAD1	56916	broad.mit.edu	37	4	95155227	95155227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:95155227C>T	ENST00000354268.4	+	4	564	c.491C>T	c.(490-492)aCt>aTt	p.T164I	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.T164I			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	164	CUE 1. {ECO:0000255|PROSITE- ProRule:PRU00468}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		aaacttcagactttgaaggaa	0.373																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(490-492)aCt>aTt		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							52.0	49.0	50.0					4																	95155227		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95155227C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.491C>T	4.37:g.95155227C>T	ENSP00000346217:p.Thr164Ile					SMARCAD1_ENST00000457823.2_Missense_Mutation_p.T164I	p.T164I			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	4	564	+			164			CUE 1.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.491C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579837	0.46006	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.16743	2.32;2.32;2.32	5.81	5.81	0.92471	Ubiquitin system component Cue (1);	0.185546	0.26045	N	0.026680	T	0.11922	0.0290	N	0.12182	0.205	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.10200	-1.0640	10	0.44086	T	0.13	-2.9545	15.5785	0.76414	0.0:1.0:0.0:0.0	.	164;164	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	I	164	ENSP00000351947:T164I;ENSP00000415576:T164I;ENSP00000346217:T164I	ENSP00000346217:T164I	T	+	2	0	SMARCAD1	95374250	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.723000	0.54955	2.736000	0.93811	0.655000	0.94253	ACT		0.373	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		19	29	0	0	0	1	0	19	29				
HR	55806	broad.mit.edu	37	8	21973915	21973915	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:21973915G>A	ENST00000381418.4	-	18	4885	c.3405C>T	c.(3403-3405)agC>agT	p.S1135S	HR_ENST00000312841.8_Silent_p.S1080S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1135	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCTGAGTGACGCTGACTGTGC	0.627																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(3403-3405)agC>agT		hair growth associated							133.0	86.0	102.0					8																	21973915		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21973915G>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.3405C>T	8.37:g.21973915G>A						HR_ENST00000312841.8_Silent_p.S1080S	p.S1135S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	18	4885	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	1135			JmjC.		Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.3405C>T	CCDS6022.1																																																																																				0.627	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			9	26	0	0	0	1	0	9	26				
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T	rs370426022		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443																																						ENST00000369219.1																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.K476K(2)|p.K476N(1)	prostate(2)|endometrium(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)aaG>aaA		neuroblastoma breakpoint family, member 14							4.0	3.0	3.0					1																	148012531		897	1999	2896	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148012531C>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1428G>A	1.37:g.148012531C>T							p.K476K			Q5TI25	NBPFE_HUMAN			12	1444	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.1428G>A		.	.	.	.	.	.	.	.	.	.	-	0.191	-1.053181	0.01965	.	.	ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29027	-1.0025	2	.	.	.	.	.	.	.	.	.	.	.	N	482;487;487	.	.	S	-	2	0	NBPF14	146479155	0.938000	0.31826	0.000000	0.03702	0.000000	0.00434	-1.468000	0.02350	-1.826000	0.01205	-1.864000	0.00558	AGC		0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		3	14	0	0	0	1	0	3	14				
SEPHS2	22928	broad.mit.edu	37	16	30455654	30455654	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr16:30455654G>A	ENST00000478753.2	-	1	1848	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	SEPHS2_ENST00000542752.1_3'UTR			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	0					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AACCATCCGTGATTGTGGACA	0.473																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(1393-1395)atC>atT		selenophosphate synthetase 2							42.0	42.0	42.0					16																	30455654		1945	4129	6074	SO:0001819	synonymous_variant	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30455654G>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1395C>T	16.37:g.30455654G>A						SEPHS2_ENST00000542752.1_3'UTR	p.I465I			Q99611	SPS2_HUMAN			1	1848	-			0					Q9BUQ2	Silent	SNP	ENST00000478753.2	37	c.1395C>T																																																																																					0.473	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		17	30	0	0	0	1	0	17	30				
C4B	721	broad.mit.edu	37	6	31997106	31997106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:31997106G>A	ENST00000435363.2	+	28	3751	c.3667G>A	c.(3667-3669)Gag>Aag	p.E1223K	C4B_ENST00000425700.2_Missense_Mutation_p.E1223K	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1223					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	AATGGCCCAGGAGACTGGAGG	0.642																																						ENST00000435363.2																			0											c.(3667-3669)Gag>Aag		complement component 4B (Chido blood group)							47.0	36.0	39.0					6																	31997106		1544	3507	5051	SO:0001583	missense	721				complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity	g.chr6:31997106G>A	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3667G>A	6.37:g.31997106G>A	ENSP00000415941:p.Glu1223Lys					C4B_ENST00000425700.2_Missense_Mutation_p.E1223K	p.E1223K	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN			28	3751	+			1223					A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000435363.2	37	c.3667G>A	CCDS47405.1	.	.	.	.	.	.	.	.	.	.	G	6.903	0.536134	0.13188	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.33216	1.42;1.42	4.93	4.03	0.46877	.	0.737512	0.13162	N	0.408981	T	0.05364	0.0142	N	0.17474	0.49	0.30293	N	0.790235	B;B	0.06786	0.0;0.001	B;B	0.17979	0.006;0.02	T	0.36456	-0.9747	10	0.07030	T	0.85	.	8.6472	0.34013	0.1128:0.0:0.8872:0.0	.	1223;1223	F5GXS0;Q6U2E9	.;.	K	1223	ENSP00000415941:E1223K;ENSP00000391933:E1223K	ENSP00000391933:E1223K	E	+	1	0	C4B	32105084	0.991000	0.36638	0.958000	0.39756	0.843000	0.47879	1.095000	0.30964	1.038000	0.40049	0.551000	0.68910	GAG		0.642	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		9	55	0	0	0	1	0	9	55				
LPCAT2	54947	broad.mit.edu	37	16	55579722	55579722	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr16:55579722A>G	ENST00000262134.5	+	9	1112	c.928A>G	c.(928-930)Atg>Gtg	p.M310V		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	310					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCGGAATTTAATGGCAGAGTA	0.299																																						ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(928-930)Atg>Gtg		lysophosphatidylcholine acyltransferase 2							89.0	89.0	89.0					16																	55579722		2198	4299	6497	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55579722A>G	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.928A>G	16.37:g.55579722A>G	ENSP00000262134:p.Met310Val						p.M310V	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			9	1112	+			310					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.928A>G	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202653	0.79127	.	.	ENSG00000087253	ENST00000262134	D	0.91945	-2.94	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.93678	3.445	0.80722	D	1	D	0.55172	0.97	P	0.49887	0.625	D	0.96414	0.9306	10	0.72032	D	0.01	-52.6035	16.2061	0.82131	1.0:0.0:0.0:0.0	.	310	Q7L5N7	PCAT2_HUMAN	V	310	ENSP00000262134:M310V	ENSP00000262134:M310V	M	+	1	0	LPCAT2	54137223	1.000000	0.71417	0.944000	0.38274	0.913000	0.54294	7.788000	0.85771	2.311000	0.77944	0.533000	0.62120	ATG		0.299	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		7	77	0	0	0	1	0	7	77				
BTBD10	84280	broad.mit.edu	37	11	13410506	13410506	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:13410506C>A	ENST00000278174.5	-	9	1545	c.1300G>T	c.(1300-1302)Gac>Tac	p.D434Y	BTBD10_ENST00000530907.1_Missense_Mutation_p.D442Y|BTBD10_ENST00000528120.1_Missense_Mutation_p.D386Y	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	434	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGGGGAATGTCTGCTGCAGCT	0.488																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(1300-1302)Gac>Tac		BTB (POZ) domain containing 10							137.0	122.0	127.0					11																	13410506		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13410506C>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.1300G>T	11.37:g.13410506C>A	ENSP00000278174:p.Asp434Tyr					BTBD10_ENST00000530907.1_Missense_Mutation_p.D442Y|BTBD10_ENST00000528120.1_Missense_Mutation_p.D386Y	p.D434Y	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	9	1545	-			434					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.1300G>T	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378307	0.82682	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.79845	-1.31;-1.31;-1.31	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.991	D	0.88735	0.3239	10	0.87932	D	0	2.1065	18.1526	0.89679	0.0:1.0:0.0:0.0	.	442;434;434	B7Z228;D3DQW7;Q9BSF8	.;.;BTBDA_HUMAN	Y	434;442;386	ENSP00000278174:D434Y;ENSP00000431186:D442Y;ENSP00000435257:D386Y	ENSP00000278174:D434Y	D	-	1	0	BTBD10	13367082	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.607000	0.88179	0.555000	0.69702	GAC		0.488	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		48	77	1	0	2.6635e-43	1	3.07571e-43	48	77				
ASMT	438	broad.mit.edu	37	X	1755398	1755398	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrX:1755398G>C	ENST00000381229.4	+	7	807	c.771G>C	c.(769-771)tgG>tgC	p.W257C	ASMT_ENST00000381241.3_Missense_Mutation_p.W285C|ASMT_ENST00000381233.3_Missense_Mutation_p.W210C			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	257					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	TCCATGACTGGGCAGACGGAA	0.567																																						ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(853-855)tgG>tgC		acetylserotonin O-methyltransferase							351.0	310.0	324.0					X																	1755398		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1755398G>C	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.771G>C	X.37:g.1755398G>C	ENSP00000370627:p.Trp257Cys					ASMT_ENST00000381229.4_Missense_Mutation_p.W257C|ASMT_ENST00000381233.3_Missense_Mutation_p.W210C	p.W285C	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			8	1054	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	257					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.855G>C		.	.	.	.	.	.	.	.	.	.	.	10.14	1.267367	0.23136	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233;ENST00000432523	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	2.33	2.33	0.28932	.	0.000000	0.85682	U	0.000000	T	0.78836	0.4346	H	0.98487	4.245	0.19300	N	0.99998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.73569	-0.3941	10	0.87932	D	0	.	12.6028	0.56506	0.0:0.0:1.0:0.0	.	210;285	P46597-2;P46597-3	.;.	C	285;257;210;36	ENSP00000370639:W285C;ENSP00000370627:W257C;ENSP00000370631:W210C;ENSP00000392053:W36C	ENSP00000370627:W257C	W	+	3	0	ASMT	1715398	1.000000	0.71417	0.065000	0.19835	0.041000	0.13682	6.966000	0.76073	0.958000	0.37956	0.453000	0.30009	TGG		0.567	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		56	143	0	0	0	1	0	56	143				
MALAT1	378938	broad.mit.edu	37	11	65267841	65267841	+	lincRNA	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:65267841G>A	ENST00000534336.1	+	0	2609				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TAAATCCTGAGGACTAGCATT	0.388																																						ENST00000534336.1																			0																				51.0	51.0	51.0					11																	65267841		874	1988	2862			378938							g.chr11:65267841G>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65267841G>A								NR_002819.2						0	2609	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.388	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		4	52	0	0	0	1	0	4	52				
ARMCX5	64860	broad.mit.edu	37	X	101857876	101857876	+	Silent	SNP	T	T	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrX:101857876T>G	ENST00000604957.1	+	1	3429	c.807T>G	c.(805-807)ccT>ccG	p.P269P	RP4-769N13.6_ENST00000476910.2_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Silent_p.P269P|ARMCX5_ENST00000541409.1_Silent_p.P269P|ARMCX5_ENST00000372742.1_Silent_p.P269P|ARMCX5_ENST00000537008.1_Silent_p.P269P|ARMCX5_ENST00000536530.1_Silent_p.P269P	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	269										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGATCCCACCTTATCATGGGC	0.488																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(805-807)ccT>ccG		armadillo repeat containing, X-linked 5							101.0	94.0	97.0					X																	101857876		2203	4300	6503	SO:0001819	synonymous_variant	64860						binding	g.chrX:101857876T>G		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.807T>G	X.37:g.101857876T>G						RP4-769N13.7_ENST00000602441.1_RNA|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000536530.1_Silent_p.P269P|ARMCX5_ENST00000372742.1_Silent_p.P269P|ARMCX5_ENST00000541409.1_Silent_p.P269P|ARMCX5_ENST00000537008.1_Silent_p.P269P|ARMCX5_ENST00000246174.2_Silent_p.P269P	p.P269P	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3429	+			269					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Silent	SNP	ENST00000604957.1	37	c.807T>G	CCDS14500.1																																																																																				0.488	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		45	42	0	0	0	1	0	45	42				
BRD9	65980	broad.mit.edu	37	5	878568	878568	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:878568C>T	ENST00000467963.1	-	11	1339	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	BRD9_ENST00000388890.4_Silent_p.S275S|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000323510.4_Silent_p.S295S|BRD9_ENST00000483173.1_Silent_p.S338S|BRD9_ENST00000435709.2_3'UTR	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	391					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.S295S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TATTCTGCATCGAAAGCGCAG	0.567																																						ENST00000323510.4																			1	Substitution - coding silent(1)	p.S295S(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(883-885)tcG>tcA		bromodomain containing 9							112.0	95.0	100.0					5																	878568		2203	4300	6503	SO:0001819	synonymous_variant	65980						nucleic acid binding	g.chr5:878568C>T	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1173G>A	5.37:g.878568C>T						BRD9_ENST00000467963.1_Silent_p.S391S|BRD9_ENST00000388890.4_Silent_p.S275S|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000483173.1_Silent_p.S338S	p.S295S			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		8	884	-			391					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	c.885G>A	CCDS34127.2																																																																																				0.567	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		9	124	0	0	0	1	0	9	124				
DNAH9	1770	broad.mit.edu	37	17	11778325	11778325	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:11778325C>T	ENST00000262442.4	+	53	10370	c.10302C>T	c.(10300-10302)gaC>gaT	p.D3434D	DNAH9_ENST00000454412.2_Silent_p.D3434D|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3434	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGATGCTGACGTGGCTGCCT	0.592																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(10300-10302)gaC>gaT		dynein, axonemal, heavy chain 9							110.0	97.0	102.0					17																	11778325		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11778325C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10302C>T	17.37:g.11778325C>T						DNAH9_ENST00000454412.2_Silent_p.D3434D|RP11-628O18.1_ENST00000579621.1_RNA	p.D3434D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	53	10370	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3434			AAA 5 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.10302C>T	CCDS11160.1																																																																																				0.592	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		35	83	0	0	0	1	0	35	83				
SUV39H2	79723	broad.mit.edu	37	10	14923625	14923625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:14923625G>A	ENST00000354919.6	+	2	158	c.158G>A	c.(157-159)tGt>tAt	p.C53Y	SUV39H2_ENST00000378325.3_Missense_Mutation_p.C53Y|RP11-398C13.6_ENST00000609399.1_lincRNA|SUV39H2_ENST00000313519.5_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	53	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GAATACTTGTGTGACTACAAG	0.338																																						ENST00000378325.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(157-159)tGt>tAt		suppressor of variegation 3-9 homolog 2 (Drosophila)							180.0	170.0	173.0					10																	14923625		876	1991	2867	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14923625G>A	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.158G>A	10.37:g.14923625G>A	ENSP00000346997:p.Cys53Tyr					SUV39H2_ENST00000313519.5_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.C53Y	p.C53Y	NM_001193426.1|NM_001193427.1	NP_001180355.1|NP_001180356.1	Q9H5I1	SUV92_HUMAN			2	184	+			53			Chromo.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.158G>A	CCDS53494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.58|19.58	3.854687|3.854687	0.71719|0.71719	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000378325;ENST00000354919|ENST00000358298	T;T|.	0.71698|.	-0.59;-0.59|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76521|0.76521	0.3999|0.3999	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.78314|.	0.991|.	T|T	0.73500|0.73500	-0.3963|-0.3963	10|5	0.72032|.	D|.	0.01|.	.|.	19.5478|19.5478	0.95307|0.95307	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	53|.	Q9H5I1-3|.	.|.	Y|M	53|43	ENSP00000367576:C53Y;ENSP00000346997:C53Y|.	ENSP00000346997:C53Y|.	C|V	+|+	2|1	0|0	SUV39H2|SUV39H2	14963631|14963631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.537000|6.537000	0.73847|0.73847	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	TGT|GTG		0.338	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		5	106	0	0	0	1	0	5	106				
PTPRO	5800	broad.mit.edu	37	12	15699542	15699542	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:15699542C>A	ENST00000281171.4	+	13	2534	c.2204C>A	c.(2203-2205)aCc>aAc	p.T735N	PTPRO_ENST00000445537.2_5'UTR|PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.T735N|PTPRO_ENST00000442921.2_5'UTR	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	735	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTGAACAAAACCCAGACTTCA	0.388																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2203-2205)aCc>aAc		protein tyrosine phosphatase, receptor type, O							91.0	86.0	88.0					12																	15699542		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15699542C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2204C>A	12.37:g.15699542C>A	ENSP00000281171:p.Thr735Asn					PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000445537.2_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.T735N|PTPRO_ENST00000442921.2_5'UTR	p.T735N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			13	2534	+		Hepatocellular(102;0.244)	735			Fibronectin type-III 8.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2204C>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241640	0.79912	.	.	ENSG00000151490	ENST00000281171;ENST00000348962	T;T	0.78246	0.3;-1.16	4.38	4.38	0.52667	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000060	T	0.80539	0.4642	L	0.29908	0.895	0.80722	D	1	D;D	0.64830	0.992;0.994	P;P	0.61592	0.866;0.891	T	0.82563	-0.0395	10	0.54805	T	0.06	.	17.5118	0.87762	0.0:1.0:0.0:0.0	.	735;735	Q16827-2;Q16827	.;PTPRO_HUMAN	N	735	ENSP00000281171:T735N;ENSP00000343434:T735N	ENSP00000281171:T735N	T	+	2	0	PTPRO	15590809	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.210000	0.72176	2.423000	0.82170	0.650000	0.86243	ACC		0.388	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			5	21	1	0	0.000602214	1	0.000634943	5	21				
BTBD7	55727	broad.mit.edu	37	14	93760396	93760396	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:93760396A>G	ENST00000334746.5	-	3	1277	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	BTBD7_ENST00000393170.2_5'UTR|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Missense_Mutation_p.Y324H|BTBD7_ENST00000298896.3_Missense_Mutation_p.Y324H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	324	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTGTTGCATATTTTTTTGGT	0.418																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(970-972)Tat>Cat		BTB (POZ) domain containing 7							82.0	72.0	76.0					14																	93760396		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93760396A>G	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.970T>C	14.37:g.93760396A>G	ENSP00000335615:p.Tyr324His					BTBD7_ENST00000393170.2_5'UTR|BTBD7_ENST00000298896.3_Missense_Mutation_p.Y324H|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Missense_Mutation_p.Y324H	p.Y324H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	1277	-		all_cancers(154;0.08)	324			BTB 2.		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.970T>C	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.782971	0.31593	.	.	ENSG00000011114	ENST00000334746;ENST00000553975;ENST00000298896;ENST00000555525	T;T;T	0.67171	-0.25;-0.25;-0.25	5.49	4.34	0.51931	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.87578	0.991;0.994;0.998	T	0.76727	-0.2853	10	0.56958	D	0.05	.	11.9882	0.53159	0.8701:0.0:0.0:0.1299	.	324;324;324	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	H	324;34;324;324	ENSP00000335615:Y324H;ENSP00000298896:Y324H;ENSP00000451408:Y324H	ENSP00000298896:Y324H	Y	-	1	0	BTBD7	92830149	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.309000	0.78937	0.919000	0.36945	-0.259000	0.10710	TAT		0.418	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		4	68	0	0	0	1	0	4	68				
HIST2H2BE	8349	broad.mit.edu	37	1	149858146	149858146	+	Silent	SNP	G	G	C	rs370228830		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:149858146G>C	ENST00000369155.2	-	1	86	c.45C>G	c.(43-45)tcC>tcG	p.S15S	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	15					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGGCTTTCTTGGAGCCCTTTT	0.537																																						ENST00000369155.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(43-45)tcC>tcG		histone cluster 2, H2be							84.0	86.0	85.0					1																	149858146		2203	4300	6503	SO:0001819	synonymous_variant	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149858146G>C	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.45C>G	1.37:g.149858146G>C							p.S15S	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	86	-	Breast(34;0.0124)|all_hematologic(923;0.127)		15					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Silent	SNP	ENST00000369155.2	37	c.45C>G	CCDS936.1																																																																																				0.537	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		35	77	0	0	0	1	0	35	77				
SCYL1	57410	broad.mit.edu	37	11	65303482	65303482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:65303482C>A	ENST00000270176.5	+	11	1522	c.1445C>A	c.(1444-1446)cCg>cAg	p.P482Q	SCYL1_ENST00000525364.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000279270.6_Missense_Mutation_p.P482Q|SCYL1_ENST00000533862.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000524944.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000420247.2_Missense_Mutation_p.P482Q|SCYL1_ENST00000527009.1_Missense_Mutation_p.P339Q	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	482					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CCGTTTGCACCGTCCCGGGTT	0.597																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1444-1446)cCg>cAg		SCY1-like 1 (S. cerevisiae)							75.0	76.0	76.0					11																	65303482		1917	4112	6029	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65303482C>A	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1445C>A	11.37:g.65303482C>A	ENSP00000270176:p.Pro482Gln					SCYL1_ENST00000279270.6_Missense_Mutation_p.P482Q|SCYL1_ENST00000270176.5_Missense_Mutation_p.P482Q|SCYL1_ENST00000533862.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000420247.2_Missense_Mutation_p.P482Q|SCYL1_ENST00000527630.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000525364.1_Missense_Mutation_p.P482Q|SCYL1_ENST00000527009.1_Missense_Mutation_p.P339Q	p.P482Q			Q96KG9	NTKL_HUMAN			11	1478	+			482					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1445C>A	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328750	0.81690	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.247105	0.39909	N	0.001230	T	0.60983	0.2311	M	0.85197	2.74	0.58432	D	0.999993	D;D;D;P;D	0.89917	0.975;1.0;0.993;0.847;0.998	P;D;P;P;D	0.80764	0.869;0.994;0.877;0.685;0.981	T	0.66606	-0.5881	10	0.72032	D	0.01	-2.115	16.7806	0.85562	0.0:1.0:0.0:0.0	.	482;482;482;482;482	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	Q	482;482;482;482;482;482;482;482;339	ENSP00000270176:P482Q;ENSP00000431635:P482Q;ENSP00000408192:P482Q;ENSP00000437254:P482Q;ENSP00000433450:P482Q;ENSP00000279270:P482Q;ENSP00000432175:P482Q;ENSP00000436993:P339Q	ENSP00000270176:P482Q	P	+	2	0	SCYL1	65060058	0.997000	0.39634	0.862000	0.33874	0.541000	0.35023	5.100000	0.64560	2.577000	0.86979	0.462000	0.41574	CCG		0.597	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		18	63	1	0	4.72057e-08	1	5.03182e-08	18	63				
BTN2A3P	54718	broad.mit.edu	37	6	26431040	26431040	+	RNA	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:26431040A>G	ENST00000466808.2	+	0	1447							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGACAAAAGAAGTGTGACATT	0.547																																						ENST00000466808.2																			0																																																			54718							g.chr6:26431040A>G	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431040A>G														0	1447	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.547	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		22	50	0	0	0	1	0	22	50				
FREM2	341640	broad.mit.edu	37	13	39265211	39265211	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr13:39265211A>T	ENST00000280481.7	+	1	3946	c.3730A>T	c.(3730-3732)Aat>Tat	p.N1244Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1244					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCAGCTGATAAATGGCACGGT	0.438																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(3730-3732)Aat>Tat		FRAS1 related extracellular matrix protein 2							222.0	215.0	217.0					13																	39265211		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265211A>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3730A>T	13.37:g.39265211A>T	ENSP00000280481:p.Asn1244Tyr						p.N1244Y	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3946	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1244					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3730A>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.785095	0.31593	.	.	ENSG00000150893	ENST00000280481	T	0.30448	1.53	6.01	4.85	0.62838	Cadherin (1);	0.094954	0.64402	D	0.000001	T	0.49440	0.1557	M	0.86343	2.81	0.52099	D	0.999948	D	0.54397	0.966	P	0.52554	0.702	T	0.56044	-0.8044	10	0.48119	T	0.1	.	11.5884	0.50931	0.931:0.0:0.069:0.0	.	1244	Q5SZK8	FREM2_HUMAN	Y	1244	ENSP00000280481:N1244Y	ENSP00000280481:N1244Y	N	+	1	0	FREM2	38163211	1.000000	0.71417	0.960000	0.40013	0.425000	0.31504	6.165000	0.71891	2.306000	0.77630	0.533000	0.62120	AAT		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		65	178	0	0	0	1	0	65	178				
RMND5A	64795	broad.mit.edu	37	2	86947840	86947840	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:86947840A>T	ENST00000283632.4	+	1	545	c.50A>T	c.(49-51)aAg>aTg	p.K17M	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	17										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GTGCTGCACAAGTTCTCAGGC	0.687																																						ENST00000283632.4																			0				kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						c.(49-51)aAg>aTg		required for meiotic nuclear division 5 homolog A (S. cerevisiae)							19.0	22.0	21.0					2																	86947840		2173	4290	6463	SO:0001583	missense	64795							g.chr2:86947840A>T	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.50A>T	2.37:g.86947840A>T	ENSP00000283632:p.Lys17Met					RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	p.K17M	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN			1	545	+			17					D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	c.50A>T	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	a	22.2	4.260520	0.80246	.	.	ENSG00000153561	ENST00000283632	.	.	.	3.3	3.3	0.37823	.	0.000000	0.56097	D	0.000027	T	0.61739	0.2371	L	0.27053	0.805	0.45837	D	0.998701	D	0.76494	0.999	D	0.72338	0.977	T	0.65792	-0.6082	9	0.87932	D	0	-11.4416	11.8419	0.52359	1.0:0.0:0.0:0.0	.	17	Q9H871	RMD5A_HUMAN	M	17	.	ENSP00000283632:K17M	K	+	2	0	RMND5A	86801351	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.656000	0.74396	1.384000	0.46424	0.248000	0.18094	AAG		0.687	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		4	1	0	0	0	1	0	4	1				
MT-ND5	4540	broad.mit.edu	37	M	13208	13208	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrM:13208G>C	ENST00000361567.2	+	1	872	c.872G>C	c.(871-873)tGc>tCc	p.C291S	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	291					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CGCAGCAGTCTGCGCCCTTAC	0.453																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(871-873)tGc>tCc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13208G>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.872G>C	M.37:g.13208G>C	ENSP00000354813:p.Cys291Ser						p.C291S			P03915	NU5M_HUMAN			1	872	+			291					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.872G>C																																																																																					0.453	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		30	104	0	0	0	1	0	30	104				
SYNE1	23345	broad.mit.edu	37	6	152763322	152763322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:152763322G>A	ENST00000367255.5	-	31	4497	c.3896C>T	c.(3895-3897)gCg>gTg	p.A1299V	SYNE1_ENST00000265368.4_Missense_Mutation_p.A1299V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1306V|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1299V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1299V|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1289V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1306V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1365V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1299					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCCTGCTGCGCCTGCGCGAT	0.567										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3895-3897)gCg>gTg		spectrin repeat containing, nuclear envelope 1							78.0	69.0	72.0					6																	152763322		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763322G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3896C>T	6.37:g.152763322G>A	ENSP00000356224:p.Ala1299Val	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.A1365V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1299V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1299V|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1289V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1306V|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1299V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1306V	p.A1299V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4497	-		Ovarian(120;0.0955)	1299					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3896C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	9.029	0.986883	0.18889	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87966	0.66;0.66;0.57;0.66;0.75;-2.22;-2.32;-2.32	5.41	1.52	0.23074	.	0.218874	0.31589	N	0.007392	D	0.85639	0.5743	M	0.65975	2.015	0.36317	D	0.85803	D;B;P;D;B;B	0.76494	0.999;0.222;0.896;0.999;0.222;0.33	P;B;B;D;B;B	0.64042	0.842;0.019;0.368;0.921;0.019;0.043	T	0.82680	-0.0337	10	0.39692	T	0.17	.	7.4196	0.27065	0.0627:0.3348:0.4872:0.1153	.	1282;1299;1289;1299;1299;1306	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	V	1299;1306;1299;1306;1365;1299;1289;1299	ENSP00000356224:A1299V;ENSP00000396024:A1306V;ENSP00000265368:A1299V;ENSP00000390975:A1306V;ENSP00000341887:A1365V;ENSP00000356222:A1299V;ENSP00000356217:A1289V;ENSP00000414510:A1299V	ENSP00000265368:A1299V	A	-	2	0	SYNE1	152805015	0.930000	0.31532	0.091000	0.20842	0.020000	0.10135	1.487000	0.35540	0.048000	0.15891	-0.843000	0.03049	GCG		0.567	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		22	91	0	0	0	1	0	22	91				
TMEM198	130612	broad.mit.edu	37	2	220412472	220412472	+	Silent	SNP	C	C	T	rs202000579		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:220412472C>T	ENST00000344458.2	+	4	996	c.411C>T	c.(409-411)tcC>tcT	p.S137S	RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Silent_p.S137S			Q66K66	TM198_HUMAN	transmembrane protein 198	137	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCTGGGCTCCGCACCCTACT	0.716													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11537	0.0		0.0	False		,,,				2504	0.0					ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(409-411)tcC>tcT		transmembrane protein 198							22.0	23.0	23.0					2																	220412472		2199	4297	6496	SO:0001819	synonymous_variant	130612					integral to membrane		g.chr2:220412472C>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.411C>T	2.37:g.220412472C>T						TMEM198_ENST00000373883.3_Silent_p.S137S	p.S137S			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	996	+		Renal(207;0.0376)	137			Leu-rich.			Silent	SNP	ENST00000344458.2	37	c.411C>T	CCDS33385.1																																																																																				0.716	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		12	32	0	0	0	1	0	12	32				
KRT13	3860	broad.mit.edu	37	17	39658663	39658663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:39658663C>T	ENST00000246635.3	-	6	1253	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	KRT13_ENST00000336861.3_Missense_Mutation_p.A403T|KRT13_ENST00000587544.1_Missense_Mutation_p.A403T|KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	403	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CGGTAGGTGGCGATCTCCTGC	0.597																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(1207-1209)Gcc>Acc		keratin 13							162.0	138.0	146.0					17																	39658663		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39658663C>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1207G>A	17.37:g.39658663C>T	ENSP00000246635:p.Ala403Thr					KRT13_ENST00000587544.1_Missense_Mutation_p.A403T|KRT13_ENST00000336861.3_Missense_Mutation_p.A403T	p.A403T	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			6	1253	-		Breast(137;0.000286)	403			Coil 2.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.1207G>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448786	0.84101	.	.	ENSG00000171401	ENST00000246635;ENST00000336861	D;D	0.90900	-2.75;-2.75	4.45	4.45	0.53987	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.46758	D	0.000263	D	0.92054	0.7482	M	0.72576	2.205	0.49483	D	0.999796	P;P;P	0.45240	0.854;0.824;0.854	P;B;P	0.50537	0.643;0.362;0.643	D	0.91340	0.5096	10	0.38643	T	0.18	.	14.4627	0.67462	0.0:0.8412:0.1588:0.0	.	403;403;403	A1A4E9;P13646-3;P13646	.;.;K1C13_HUMAN	T	403	ENSP00000246635:A403T;ENSP00000336604:A403T	ENSP00000246635:A403T	A	-	1	0	KRT13	36912189	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.549000	0.45803	2.460000	0.83146	0.478000	0.44815	GCC		0.597	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		48	103	0	0	0	1	0	48	103				
ZNF512B	57473	broad.mit.edu	37	20	62631039	62631039	+	Intron	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr20:62631039G>A	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.R317H			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCATCAGCCCGCCTGGAAGAA	0.557																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(949-951)cGc>cAc		pre-mRNA processing factor 6							78.0	67.0	70.0					20																	62631039		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62631039G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31731C>T	20.37:g.62631039G>A						ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	p.R317H			O94906	PRP6_HUMAN			8	1061	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		317					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.950G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201601	0.94997	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.36157	1.27;1.27	5.53	4.57	0.56435	Tetratricopeptide-like helical (1);	0.093137	0.64402	D	0.000001	T	0.69387	0.3105	H	0.94698	3.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.973	T	0.78666	-0.2115	10	0.87932	D	0	-11.7158	14.8138	0.70017	0.0705:0.0:0.9295:0.0	.	317;317	O94906-2;O94906	.;PRP6_HUMAN	H	317	ENSP00000266079:R317H;ENSP00000446216:R317H	ENSP00000266079:R317H	R	+	2	0	PRPF6	62101483	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.328000	0.79160	2.617000	0.88574	0.644000	0.83932	CGC		0.557	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		20	28	0	0	0	1	0	20	28				
CMTM5	116173	broad.mit.edu	37	14	23846483	23846483	+	Missense_Mutation	SNP	G	G	A	rs200320289		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:23846483G>A	ENST00000339180.4	+	1	239	c.23G>A	c.(22-24)cGg>cAg	p.R8Q	CMTM5_ENST00000555731.1_Missense_Mutation_p.R8Q|CMTM5_ENST00000397227.3_Missense_Mutation_p.R8Q|CMTM5_ENST00000382809.2_Missense_Mutation_p.R8Q|CMTM5_ENST00000359320.3_Missense_Mutation_p.R8Q|CMTM5_ENST00000342473.4_Missense_Mutation_p.R8Q			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	8					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CGAGATCGCCGGGACCGGCAC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17837	0.0		0.0	False		,,,				2504	0.0					ENST00000359320.3																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8						c.(22-24)cGg>cAg		CKLF-like MARVEL transmembrane domain containing 5							72.0	77.0	75.0					14																	23846483		2203	4300	6503	SO:0001583	missense	116173				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23846483G>A	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.23G>A	14.37:g.23846483G>A	ENSP00000344819:p.Arg8Gln					CMTM5_ENST00000339180.4_Missense_Mutation_p.R8Q|CMTM5_ENST00000555731.1_Missense_Mutation_p.R8Q|CMTM5_ENST00000382809.2_Missense_Mutation_p.R8Q|CMTM5_ENST00000342473.4_Missense_Mutation_p.R8Q|CMTM5_ENST00000397227.3_Missense_Mutation_p.R8Q	p.R8Q	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	1	467	+	all_cancers(95;2e-05)		8					E9PH91|Q5PY48	Missense_Mutation	SNP	ENST00000339180.4	37	c.23G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.16	3.319139	0.60524	.	.	ENSG00000166091	ENST00000359320;ENST00000382809;ENST00000339180;ENST00000342473;ENST00000397227;ENST00000555731	T;T;T;T	0.59083	1.22;0.57;0.54;0.29	4.42	-0.645	0.11475	.	0.443402	0.19379	N	0.115704	T	0.29355	0.0731	N	0.17082	0.46	0.09310	N	0.999997	B;B;B;B;B	0.33940	0.003;0.433;0.043;0.116;0.014	B;B;B;B;B	0.29598	0.001;0.104;0.008;0.012;0.008	T	0.17349	-1.0372	10	0.62326	D	0.03	0.9085	0.4154	0.00448	0.259:0.1393:0.3178:0.2839	.	8;8;8;8;8	C9JAI6;Q96DZ9;Q96DZ9-5;E9PH91;Q96DZ9-2	.;CKLF5_HUMAN;.;.;.	Q	8	ENSP00000352270:R8Q;ENSP00000372259:R8Q;ENSP00000344819:R8Q;ENSP00000451514:R8Q	ENSP00000344819:R8Q	R	+	2	0	CMTM5	22916323	0.063000	0.20901	0.242000	0.24170	0.870000	0.49936	0.088000	0.14979	-0.106000	0.12110	-0.136000	0.14681	CGG		0.607	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			26	77	0	0	0	1	0	26	77				
GPRIN1	114787	broad.mit.edu	37	5	176024594	176024594	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:176024594C>T	ENST00000303991.4	-	2	2419	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	748					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGGCTCCACGCGGCCTTCA	0.687																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2242-2244)Gtg>Atg		G protein regulated inducer of neurite outgrowth 1							12.0	14.0	13.0					5																	176024594		2192	4288	6480	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176024594C>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.2242G>A	5.37:g.176024594C>T	ENSP00000305839:p.Val748Met						p.V748M	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	2419	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	748					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.2242G>A	CCDS4405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.76|10.76	1.439973|1.439973	0.25900|0.25900	.|.	.|.	ENSG00000169258|ENSG00000169258	ENST00000335532|ENST00000303991	.|T	.|0.09630	.|2.96	4.53|4.53	1.14|1.14	0.20703|0.20703	.|.	.|23.843500	.|0.01132	.|N	.|0.006019	.|T	.|0.09992	.|0.0245	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|P	.|0.46706	.|0.883	.|B	.|0.40038	.|0.317	.|T	.|0.25082	.|-1.0142	.|10	.|0.46703	.|T	.|0.11	.|19.1727	0.6716|0.6716	0.00859|0.00859	0.3174:0.2018:0.3095:0.1712|0.3174:0.2018:0.3095:0.1712	.|.	.|748	.|Q7Z2K8	.|GRIN1_HUMAN	.|M	-1|748	.|ENSP00000305839:V748M	.|ENSP00000305839:V748M	.|V	-|-	.|1	.|0	GPRIN1|GPRIN1	175957200|175957200	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.065000|0.065000	0.16274|0.16274	-2.093000|-2.093000	0.01353|0.01353	0.868000|0.868000	0.35678|0.35678	0.455000|0.455000	0.32223|0.32223	.|GTG		0.687	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		7	19	0	0	0	1	0	7	19				
RELN	5649	broad.mit.edu	37	7	103214639	103214639	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:103214639C>T	ENST00000428762.1	-	30	4570	c.4411G>A	c.(4411-4413)Gga>Aga	p.G1471R	RELN_ENST00000343529.5_Missense_Mutation_p.G1471R|RELN_ENST00000424685.2_Missense_Mutation_p.G1471R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1471					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCCAGTTCCAACCTGGGCA	0.512																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(4411-4413)Gga>Aga		reelin							145.0	126.0	132.0					7																	103214639		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103214639C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4411G>A	7.37:g.103214639C>T	ENSP00000392423:p.Gly1471Arg					RELN_ENST00000424685.2_Missense_Mutation_p.G1471R|RELN_ENST00000343529.5_Missense_Mutation_p.G1471R	p.G1471R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	30	4570	-			1471					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4411G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801093	0.90538	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.50548	1.59;0.74;1.59	5.36	5.36	0.76844	.	0.114484	0.64402	D	0.000013	T	0.69006	0.3063	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.984;0.999	T	0.70270	-0.4918	10	0.62326	D	0.03	.	19.4429	0.94831	0.0:1.0:0.0:0.0	.	1471;1471	P78509-2;P78509	.;RELN_HUMAN	R	1471	ENSP00000392423:G1471R;ENSP00000345694:G1471R;ENSP00000388446:G1471R	ENSP00000345694:G1471R	G	-	1	0	RELN	103001875	1.000000	0.71417	0.967000	0.41034	0.975000	0.68041	5.711000	0.68400	2.669000	0.90835	0.655000	0.94253	GGA		0.512	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		8	123	0	0	0	1	0	8	123				
KHDC1	80759	broad.mit.edu	37	6	73951452	73951452	+	Splice_Site	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:73951452C>A	ENST00000370384.3	-	5	1015		c.e5-1		RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Splice_Site	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1							integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						ATCTCCAGGCCTGCAAAATAA	0.587																																						ENST00000370384.3																			0				large_intestine(1)|lung(4)|skin(1)	6						c.e5-1		KH homology domain containing 1							53.0	53.0	53.0					6																	73951452		1927	4151	6078	SO:0001630	splice_region_variant	80759					integral to membrane	RNA binding	g.chr6:73951452C>A		CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.515-1G>T	6.37:g.73951452C>A						RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Splice_Site		NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN			5	1015	-								Q5JSQ7|Q8WTV2|Q96NQ5	Splice_Site	SNP	ENST00000370384.3	37		CCDS59027.1	.	.	.	.	.	.	.	.	.	.	C	7.034	0.561281	0.13498	.	.	ENSG00000135314	ENST00000257765;ENST00000370384	.	.	.	2.04	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.30992	N	0.721345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6038	0.28091	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KHDC1	74008173	0.294000	0.24380	0.029000	0.17559	0.067000	0.16453	1.757000	0.38400	1.440000	0.47531	0.561000	0.74099	.		0.587	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568	Intron	19	42	1	0	6.94344e-10	1	7.65357e-10	19	42				
C7orf57	136288	broad.mit.edu	37	7	48081064	48081064	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:48081064A>G	ENST00000348904.3	+	3	401	c.189A>G	c.(187-189)atA>atG	p.I63M	C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Missense_Mutation_p.I108M|C7orf57_ENST00000430738.1_Missense_Mutation_p.I108M|C7orf57_ENST00000539619.1_Missense_Mutation_p.I63M	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	63										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GATACTGGATAAAAGAAACAG	0.592																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(187-189)atA>atG		chromosome 7 open reading frame 57							38.0	42.0	41.0					7																	48081064		1914	4130	6044	SO:0001583	missense	136288							g.chr7:48081064A>G	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.189A>G	7.37:g.48081064A>G	ENSP00000335500:p.Ile63Met					C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.I108M|C7orf57_ENST00000420324.1_Missense_Mutation_p.I108M|C7orf57_ENST00000539619.1_Missense_Mutation_p.I63M	p.I63M	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			3	401	+			63					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.189A>G	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679452	0.68042	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.69	-5.27	0.02763	.	0.190366	0.42053	D	0.000769	T	0.49966	0.1588	M	0.73962	2.25	0.41683	D	0.989302	D	0.61080	0.989	P	0.61201	0.885	T	0.55263	-0.8168	10	0.72032	D	0.01	-47.4141	6.7698	0.23587	0.151:0.6319:0.1305:0.0866	.	63	Q8NEG2	CG057_HUMAN	M	108;108;63;63	ENSP00000394648:I108M;ENSP00000410944:I108M;ENSP00000335500:I63M;ENSP00000442474:I63M	ENSP00000335500:I63M	I	+	3	3	C7orf57	48047589	0.177000	0.23109	0.834000	0.33040	0.605000	0.37080	-1.100000	0.03339	-1.302000	0.02335	0.460000	0.39030	ATA		0.592	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		13	18	0	0	0	1	0	13	18				
LRP1B	53353	broad.mit.edu	37	2	141598619	141598619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:141598619C>T	ENST00000389484.3	-	30	5953	c.4982G>A	c.(4981-4983)cGt>cAt	p.R1661H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1661					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATAAATTACGTGACACCCA	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4981-4983)cGt>cAt		low density lipoprotein receptor-related protein 1B							135.0	125.0	129.0					2																	141598619		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141598619C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4982G>A	2.37:g.141598619C>T	ENSP00000374135:p.Arg1661His	TSP Lung(27;0.18)					p.R1661H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	30	5953	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1661					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4982G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463445	0.84425	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91740	-2.9	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);	0.066897	0.56097	U	0.000027	D	0.93969	0.8069	M	0.64260	1.97	0.48341	D	0.999635	D	0.67145	0.996	P	0.53689	0.732	D	0.94199	0.7448	10	0.62326	D	0.03	.	19.2577	0.93952	0.0:1.0:0.0:0.0	.	1661	Q9NZR2	LRP1B_HUMAN	H	1661;1599	ENSP00000374135:R1661H	ENSP00000374135:R1661H	R	-	2	0	LRP1B	141315089	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.978000	0.56881	2.563000	0.86464	0.460000	0.39030	CGT		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		24	80	0	0	0	1	0	24	80				
ELFN2	114794	broad.mit.edu	37	22	37769728	37769728	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr22:37769728C>T	ENST00000402918.2	-	3	2632	c.1847G>A	c.(1846-1848)cGc>cAc	p.R616H	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	616					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCTCAGCTGGCGCTGTAGTGG	0.682																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(1846-1848)cGc>cAc		extracellular leucine-rich repeat and fibronectin type III domain containing 2							11.0	9.0	10.0					22																	37769728		2118	4160	6278	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769728C>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1847G>A	22.37:g.37769728C>T	ENSP00000385277:p.Arg616His					ELFN2_ENST00000349653.3_Missense_Mutation_p.R616H|RP1-63G5.5_ENST00000430883.1_RNA	p.R616H	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	2632	-	Melanoma(58;0.0574)		616					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1847G>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097751	0.76870	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.72051	-0.62;-0.62	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.82153	0.4975	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84599	0.0671	10	0.87932	D	0	-36.0804	17.7314	0.88378	0.0:1.0:0.0:0.0	.	616	Q5R3F8	PPR29_HUMAN	H	616	ENSP00000300147:R616H;ENSP00000385277:R616H	ENSP00000300147:R616H	R	-	2	0	ELFN2	36099674	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.508000	0.81686	2.160000	0.67779	0.498000	0.49722	CGC		0.682	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		7	8	0	0	0	1	0	7	8				
XRN1	54464	broad.mit.edu	37	3	142103391	142103391	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:142103391G>T	ENST00000264951.4	-	21	2593	c.2476C>A	c.(2476-2478)Cct>Act	p.P826T	XRN1_ENST00000392981.2_Missense_Mutation_p.P826T	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	826					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAAACAAAAGGAACAACTTGT	0.308																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(2476-2478)Cct>Act		5'-3' exoribonuclease 1							119.0	117.0	118.0					3																	142103391		2203	4296	6499	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142103391G>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2476C>A	3.37:g.142103391G>T	ENSP00000264951:p.Pro826Thr					XRN1_ENST00000392981.2_Missense_Mutation_p.P826T	p.P826T	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			21	2593	-			826					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.2476C>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573567	0.86542	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.30448	1.53;1.53	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	M	0.75264	2.295	0.80722	D	1	B;B;B	0.29085	0.031;0.232;0.23	B;B;B	0.26517	0.032;0.07;0.032	T	0.18650	-1.0330	10	0.23891	T	0.37	-13.5351	19.1915	0.93669	0.0:0.0:1.0:0.0	.	687;826;826	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	T	826	ENSP00000264951:P826T;ENSP00000376707:P826T	ENSP00000264951:P826T	P	-	1	0	XRN1	143586081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.491000	0.81471	2.528000	0.85240	0.650000	0.86243	CCT		0.308	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		26	89	1	0	1.85244e-09	1	2.01895e-09	26	89				
OR2M3	127062	broad.mit.edu	37	1	248366532	248366532	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:248366532C>A	ENST00000456743.1	+	1	201	c.163C>A	c.(163-165)Ctc>Atc	p.L55I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGACACCCAGCTCCACACCCC	0.557																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(163-165)Ctc>Atc		olfactory receptor, family 2, subfamily M, member 3							324.0	302.0	309.0					1																	248366532		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366532C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.163C>A	1.37:g.248366532C>A	ENSP00000389625:p.Leu55Ile						p.L55I	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	201	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		55					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.163C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743789	0.49151	.	.	ENSG00000228198	ENST00000456743	T	0.13778	2.56	2.44	1.5	0.22942	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29328	U	0.012477	T	0.47192	0.1432	H	0.96691	3.865	0.25461	N	0.987917	D	0.89917	1.0	D	0.91635	0.999	T	0.46569	-0.9182	10	0.87932	D	0	.	9.9587	0.41682	0.0:0.8866:0.0:0.1134	.	55	Q8NG83	OR2M3_HUMAN	I	55	ENSP00000389625:L55I	ENSP00000389625:L55I	L	+	1	0	OR2M3	246433155	0.804000	0.28969	0.013000	0.15412	0.014000	0.08584	1.336000	0.33850	0.281000	0.22233	-1.111000	0.02071	CTC		0.557	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		114	271	1	0	1.54771e-57	1	1.80877e-57	114	271				
MORC1	27136	broad.mit.edu	37	3	108773723	108773723	+	Silent	SNP	G	G	A	rs7631480	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:108773723G>A	ENST00000483760.1	-	14	1225	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	MORC1_ENST00000232603.5_Silent_p.G394G					MORC family CW-type zinc finger 1									p.G394G(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCACGCCTGCGCCAAGTCTGA	0.303													g|||	11	0.00219649	0.0076	0.0	5008	,	,		16447	0.0		0.001	False		,,,				2504	0.0					ENST00000232603.5																			1	Substitution - coding silent(1)	p.G394G(1)	ovary(1)	breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1180-1182)ggC>ggT		MORC family CW-type zinc finger 1		A		34,4372	38.4+/-70.7	0,34,2169	73.0	70.0	71.0		1182	-6.0	0.6	3	dbSNP_116	71	0,8600		0,0,4300	no	coding-synonymous	MORC1	NM_014429.3		0,34,6469	AA,AG,GG		0.0,0.7717,0.2614		394/985	108773723	34,12972	2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108773723G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1182C>T	3.37:g.108773723G>A						MORC1_ENST00000483760.1_Silent_p.G394G	p.G394G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			14	1264	-			394						Silent	SNP	ENST00000483760.1	37	c.1182C>T																																																																																					0.303	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			22	57	0	0	0	1	0	22	57				
KNDC1	85442	broad.mit.edu	37	10	135003312	135003312	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:135003312G>A	ENST00000304613.3	+	9	1591	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E524K|KNDC1_ENST00000368571.2_Missense_Mutation_p.E459K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	524	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTGGTAACTGAAAAGGTACC	0.642																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(1570-1572)Gaa>Aaa		kinase non-catalytic C-lobe domain (KIND) containing 1							64.0	68.0	67.0					10																	135003312		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135003312G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1570G>A	10.37:g.135003312G>A	ENSP00000304437:p.Glu524Lys					KNDC1_ENST00000368572.2_Missense_Mutation_p.E524K|KNDC1_ENST00000368571.2_Missense_Mutation_p.E459K	p.E524K			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	9	1591	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	524			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1570G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108459	0.56291	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.40225	1.04;1.04;1.04	3.9	3.9	0.45041	KIND (2);	0.088479	0.42964	U	0.000637	T	0.59101	0.2169	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.89917	1.0;0.982	D;P	0.83275	0.996;0.758	T	0.62172	-0.6910	10	0.62326	D	0.03	-20.5718	11.7704	0.51956	0.0:0.0:1.0:0.0	.	459;524	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	K	524;524;459	ENSP00000304437:E524K;ENSP00000357561:E524K;ENSP00000357560:E459K	ENSP00000304437:E524K	E	+	1	0	KNDC1	134853302	0.999000	0.42202	0.694000	0.30210	0.090000	0.18270	4.613000	0.61176	1.884000	0.54569	0.573000	0.79308	GAA		0.642	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		5	25	0	0	0	1	0	5	25				
RAI14	26064	broad.mit.edu	37	5	34824125	34824125	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:34824125C>T	ENST00000265109.3	+	15	2465	c.2178C>T	c.(2176-2178)aaC>aaT	p.N726N	RAI14_ENST00000515799.1_Silent_p.N729N|RAI14_ENST00000512629.1_Silent_p.N697N|RAI14_ENST00000503673.1_Silent_p.N726N|RAI14_ENST00000397449.1_Silent_p.N719N|RAI14_ENST00000428746.2_Silent_p.N726N|RAI14_ENST00000506376.1_Silent_p.N718N	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	726						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AAAAAGAGAACTCTGTCTCTA	0.408																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2176-2178)aaC>aaT		retinoic acid induced 14							83.0	81.0	82.0					5																	34824125		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34824125C>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2178C>T	5.37:g.34824125C>T						RAI14_ENST00000515799.1_Silent_p.N729N|RAI14_ENST00000512629.1_Silent_p.N697N|RAI14_ENST00000397449.1_Silent_p.N719N|RAI14_ENST00000506376.1_Silent_p.N718N|RAI14_ENST00000428746.2_Silent_p.N726N|RAI14_ENST00000503673.1_Silent_p.N726N	p.N726N	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			15	2465	+	all_lung(31;0.000191)		726					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.2178C>T	CCDS34142.1																																																																																				0.408	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		25	33	0	0	0	1	0	25	33				
CNTNAP5	129684	broad.mit.edu	37	2	125175049	125175049	+	Missense_Mutation	SNP	C	C	G	rs375524808	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:125175049C>G	ENST00000431078.1	+	4	775	c.411C>G	c.(409-411)agC>agG	p.S137R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	137	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGCTGACAGCGTGGTGCACC	0.488																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(409-411)agC>agG		contactin associated protein-like 5							88.0	89.0	89.0					2																	125175049		2005	4198	6203	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175049C>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.411C>G	2.37:g.125175049C>G	ENSP00000399013:p.Ser137Arg						p.S137R	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	775	+			137			F5/8 type C.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.411C>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528665	0.64860	.	.	ENSG00000155052	ENST00000431078	D	0.97505	-4.41	6.17	-7.2	0.01495	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.099067	0.43110	D	0.000609	D	0.97037	0.9032	M	0.66378	2.025	0.22926	N	0.998558	D	0.60575	0.988	P	0.60949	0.881	D	0.94065	0.7330	10	0.62326	D	0.03	.	18.2567	0.90022	0.0:0.3137:0.0:0.6863	.	137	Q8WYK1	CNTP5_HUMAN	R	137	ENSP00000399013:S137R	ENSP00000399013:S137R	S	+	3	2	CNTNAP5	124891519	0.000000	0.05858	0.575000	0.28536	0.993000	0.82548	-2.934000	0.00686	-1.495000	0.01831	-0.123000	0.14984	AGC		0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			11	25	0	0	0	1	0	11	25				
TBC1D1	23216	broad.mit.edu	37	4	38023338	38023338	+	Splice_Site	SNP	G	G	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:38023338G>C	ENST00000261439.4	+	6	1564	c.1209G>C	c.(1207-1209)gaG>gaC	p.E403D	TBC1D1_ENST00000508802.1_Splice_Site_p.E403D	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	403	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGAGGATAGAGGGTGAGTAGG	0.552																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.e6+1		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							31.0	30.0	30.0					4																	38023338		2203	4300	6503	SO:0001630	splice_region_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38023338G>C	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1210+1G>C	4.37:g.38023338G>C						TBC1D1_ENST00000508802.1_Splice_Site_p.E403_splice	p.E403_splice	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			6	1564	+			403			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Splice_Site	SNP	ENST00000261439.4	37	c.1210_splice	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.28|16.28	3.077916|3.077916	0.55753|0.55753	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803|ENST00000510573	T;T;T|.	0.28666|.	2.86;3.25;1.6|.	5.76|5.76	2.73|2.73	0.32206|0.32206	.|.	0.000000|.	0.64402|.	D|.	0.000017|.	T|T	0.47340|0.47340	0.1440|0.1440	L|L	0.49778|0.49778	1.585|1.585	0.80722|0.80722	D|D	1|1	P;P;B;P|.	0.49559|.	0.867;0.925;0.262;0.867|.	P;P;B;P|.	0.49708|.	0.62;0.57;0.053;0.62|.	T|T	0.45600|0.45600	-0.9250|-0.9250	10|5	0.62326|.	D|.	0.03|.	-31.162|-31.162	2.249|2.249	0.04039|0.04039	0.3434:0.0:0.4238:0.2329|0.3434:0.0:0.4238:0.2329	.|.	403;403;135;403|.	B9A6J6;E9PGH8;Q6PJJ8;Q86TI0|.	.;.;.;TBCD1_HUMAN|.	D|R	403;403;274|51	ENSP00000423651:E403D;ENSP00000261439:E403D;ENSP00000396877:E274D|.	ENSP00000261439:E403D|.	E|G	+|+	3|1	2|0	TBC1D1|TBC1D1	37699733|37699733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	2.435000|2.435000	0.44811|0.44811	1.446000|1.446000	0.47643|0.47643	0.591000|0.591000	0.81541|0.81541	GAG|GGG		0.552	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	Missense_Mutation	3	20	0	0	0	1	0	3	20				
GRIN1	2902	broad.mit.edu	37	9	140058119	140058119	+	Splice_Site	SNP	C	C	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr9:140058119C>G	ENST00000371561.3	+	17	3539	c.2442C>G	c.(2440-2442)gcC>gcG	p.A814A	GRIN1_ENST00000371553.3_Splice_Site_p.A835A|GRIN1_ENST00000315048.3_Splice_Site_p.A814A|GRIN1_ENST00000371559.4_Splice_Site_p.A814A|GRIN1_ENST00000371555.4_Splice_Site_p.A835A|GRIN1_ENST00000371560.3_Splice_Site_p.A835A|GRIN1_ENST00000371550.4_Splice_Site_p.A814A|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Splice_Site_p.A814A|GRIN1_ENST00000371546.4_Splice_Site_p.A835A	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	814					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGAACATGGCCGGTGCGTTCT	0.597																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e17+1		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						79.0	68.0	72.0					9																	140058119		2203	4300	6503	SO:0001630	splice_region_variant	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140058119C>G		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.2443+1C>G	9.37:g.140058119C>G						GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Splice_Site_p.A835_splice|GRIN1_ENST00000315048.3_Splice_Site_p.A814_splice|GRIN1_ENST00000350902.5_Splice_Site_p.A814_splice|GRIN1_ENST00000371553.3_Splice_Site_p.A835_splice|GRIN1_ENST00000371550.4_Splice_Site_p.A814_splice|GRIN1_ENST00000371555.4_Splice_Site_p.A835_splice|GRIN1_ENST00000371559.4_Splice_Site_p.A814_splice|GRIN1_ENST00000371560.3_Splice_Site_p.A835_splice	p.A814_splice	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	17	3539	+	all_cancers(76;0.0926)		814					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Splice_Site	SNP	ENST00000371561.3	37	c.2443_splice	CCDS7031.1																																																																																				0.597	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327	Silent	13	40	0	0	0	1	0	13	40				
MUC7	4589	broad.mit.edu	37	4	71347107	71347107	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:71347107C>A	ENST00000304887.5	+	3	836	c.646C>A	c.(646-648)Ccc>Acc	p.P216T	MUC7_ENST00000413702.1_Missense_Mutation_p.P216T|MUC7_ENST00000456088.1_Missense_Mutation_p.P216T	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	216	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTGCCCCACCCACACCTCC	0.597																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(646-648)Ccc>Acc		mucin 7, secreted							425.0	367.0	386.0					4																	71347107		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347107C>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.646C>A	4.37:g.71347107C>A	ENSP00000302021:p.Pro216Thr					MUC7_ENST00000304887.5_Missense_Mutation_p.P216T|MUC7_ENST00000456088.1_Missense_Mutation_p.P216T	p.P216T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	934	+			216			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.646C>A	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	1.463	-0.561903	0.03939	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.49720	0.77;0.77;0.77	1.4	-0.859	0.10685	.	.	.	.	.	T	0.26048	0.0635	N	0.19112	0.55	0.09310	N	1	P	0.37101	0.582	B	0.35655	0.207	T	0.13548	-1.0505	8	.	.	.	.	4.5346	0.12022	0.2337:0.3012:0.4651:0.0	.	216	Q8TAX7	MUC7_HUMAN	T	216	ENSP00000407422:P216T;ENSP00000400585:P216T;ENSP00000302021:P216T	.	P	+	1	0	MUC7	71381696	0.080000	0.21391	0.005000	0.12908	0.008000	0.06430	-0.300000	0.08243	-0.309000	0.08779	-0.302000	0.09304	CCC		0.597	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		4	43	1	0	0.150653	1	0.150653	4	43				
ADAM20	8748	broad.mit.edu	37	14	70989374	70989374	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:70989374G>A	ENST00000256389.3	-	2	2495	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	701					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAACCAAAGGAAGAAGGCAC	0.383																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(2251-2253)Cct>Tct		ADAM metallopeptidase domain 20							190.0	163.0	172.0					14																	70989374		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989374G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2251C>T	14.37:g.70989374G>A	ENSP00000256389:p.Pro751Ser					RP11-486O13.4_ENST00000556646.1_lincRNA	p.P751S	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2495	-			701					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.2251C>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	4.866	0.161010	0.09287	.	.	ENSG00000134007	ENST00000256389	T	0.00922	5.54	4.17	-0.169	0.13339	.	2.893420	0.02479	U	0.088280	T	0.00784	0.0026	N	0.17474	0.49	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.47911	-0.9080	10	0.24483	T	0.36	.	2.5755	0.04805	0.1829:0.1455:0.5229:0.1488	.	701	O43506	ADA20_HUMAN	S	751	ENSP00000256389:P751S	ENSP00000256389:P751S	P	-	1	0	ADAM20	70059127	0.000000	0.05858	0.003000	0.11579	0.094000	0.18550	-0.490000	0.06482	0.000000	0.14550	0.650000	0.86243	CCT		0.383	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			36	74	0	0	0	1	0	36	74				
MAP1A	4130	broad.mit.edu	37	15	43821897	43821897	+	Silent	SNP	C	C	T	rs202171638		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:43821897C>T	ENST00000300231.5	+	5	8535	c.8085C>T	c.(8083-8085)ctC>ctT	p.L2695L	MAP1A_ENST00000382031.1_Silent_p.L2933L|MAP1A_ENST00000399453.1_Silent_p.L2695L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2695					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATGTGGATCTCGCCTACATCC	0.517																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8797-8799)ctC>ctT		microtubule-associated protein 1A	Estramustine(DB01196)						132.0	133.0	133.0					15																	43821897		2082	4230	6312	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821897C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.8085C>T	15.37:g.43821897C>T						MAP1A_ENST00000300231.5_Silent_p.L2695L|MAP1A_ENST00000399453.1_Silent_p.L2695L	p.L2933L			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	6	8830	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2695					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.8799C>T	CCDS42031.1																																																																																				0.517	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		28	89	0	0	0	1	0	28	89				
ADAMTS12	81792	broad.mit.edu	37	5	33549375	33549375	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:33549375G>A	ENST00000504830.1	-	21	4574	c.4239C>T	c.(4237-4239)ccC>ccT	p.P1413P	ADAMTS12_ENST00000352040.3_Silent_p.P1328P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1413	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1413P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTCAATGGGGGAGGAATGC	0.612										HNSCC(64;0.19)																												ENST00000504830.1																			1	Substitution - coding silent(1)	p.P1413P(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(4237-4239)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 12							68.0	70.0	69.0					5																	33549375		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33549375G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4239C>T	5.37:g.33549375G>A		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.P1328P	p.P1413P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			21	4574	-			1413			TSP type-1 6.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.4239C>T	CCDS34140.1																																																																																				0.612	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		24	59	0	0	0	1	0	24	59				
TGM3	7053	broad.mit.edu	37	20	2297758	2297758	+	Silent	SNP	C	C	T	rs201594514		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr20:2297758C>T	ENST00000381458.5	+	6	777	c.714C>T	c.(712-714)agC>agT	p.S238S	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	238					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGAATTGGAGCGGCACTTACA	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20821	0.0		0.0	False		,,,				2504	0.0					ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(712-714)agC>agT		transglutaminase 3	L-Glutamine(DB00130)						97.0	105.0	102.0					20																	2297758		2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2297758C>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.714C>T	20.37:g.2297758C>T						TGM3_ENST00000463090.1_3'UTR	p.S238S	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			6	777	+			238					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.714C>T	CCDS33435.1																																																																																				0.532	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		32	91	0	0	0	1	0	32	91				
SYTL2	54843	broad.mit.edu	37	11	85420460	85420460	+	Silent	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:85420460A>G	ENST00000528231.1	-	12	2191	c.1914T>C	c.(1912-1914)taT>taC	p.Y638Y	SYTL2_ENST00000525423.1_Silent_p.Y960Y|SYTL2_ENST00000359152.5_Silent_p.Y1484Y|SYTL2_ENST00000316356.4_Silent_p.Y639Y|SYTL2_ENST00000524452.1_Silent_p.Y614Y|SYTL2_ENST00000389960.4_Silent_p.Y614Y|SYTL2_ENST00000525702.1_Silent_p.Y80Y|SYTL2_ENST00000529581.1_Silent_p.Y80Y|SYTL2_ENST00000533892.1_Silent_p.Y40Y|SYTL2_ENST00000354566.3_Silent_p.Y976Y|SYTL2_ENST00000527523.1_Silent_p.Y606Y|SYTL2_ENST00000389958.3_Silent_p.Y69Y	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	638	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTGACTCCACATATTCAATTG	0.408																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(4450-4452)taT>taC		synaptotagmin-like 2							127.0	121.0	123.0					11																	85420460		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85420460A>G	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1914T>C	11.37:g.85420460A>G						SYTL2_ENST00000525702.1_Silent_p.Y80Y|SYTL2_ENST00000527523.1_Silent_p.Y606Y|SYTL2_ENST00000389960.4_Silent_p.Y614Y|SYTL2_ENST00000354566.3_Silent_p.Y976Y|SYTL2_ENST00000389958.3_Silent_p.Y69Y|SYTL2_ENST00000524452.1_Silent_p.Y614Y|SYTL2_ENST00000525423.1_Silent_p.Y960Y|SYTL2_ENST00000528231.1_Silent_p.Y638Y|SYTL2_ENST00000529581.1_Silent_p.Y80Y|SYTL2_ENST00000533892.1_Silent_p.Y40Y|SYTL2_ENST00000316356.4_Silent_p.Y639Y	p.Y1484Y	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	4451	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	638					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.4452T>C	CCDS53688.1																																																																																				0.408	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		6	121	0	0	0	1	0	6	121				
FOXO3	2309	broad.mit.edu	37	6	108984910	108984910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:108984910C>T	ENST00000343882.6	+	3	1178	c.874C>T	c.(874-876)Cct>Tct	p.P292S	FOXO3_ENST00000406360.1_Missense_Mutation_p.P292S|FOXO3_ENST00000540898.1_Missense_Mutation_p.P72S	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	292				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTCCAAGTGGCCTGGCAGCCC	0.622																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(874-876)Cct>Tct		forkhead box O3							24.0	26.0	26.0					6																	108984910		2202	4298	6500	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108984910C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.874C>T	6.37:g.108984910C>T	ENSP00000339527:p.Pro292Ser					FOXO3_ENST00000343882.6_Missense_Mutation_p.P292S|FOXO3_ENST00000540898.1_Missense_Mutation_p.P72S	p.P292S	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1217	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	292	PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).				B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.874C>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370818	0.24771	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.91180	-2.8;-2.8	5.84	5.84	0.93424	.	0.096214	0.64402	D	0.000001	D	0.85496	0.5710	L	0.53780	1.695	0.80722	D	1	B	0.31837	0.342	B	0.28638	0.092	D	0.83722	0.0193	10	0.40728	T	0.16	-4.763	20.1432	0.98067	0.0:1.0:0.0:0.0	.	292	O43524	FOXO3_HUMAN	S	292;292;72;72	ENSP00000339527:P292S;ENSP00000385824:P292S	ENSP00000339527:P292S	P	+	1	0	FOXO3	109091603	1.000000	0.71417	0.999000	0.59377	0.021000	0.10359	4.567000	0.60850	2.769000	0.95229	0.561000	0.74099	CCT		0.622	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			4	32	0	0	0	1	0	4	32				
EPHB6	2051	broad.mit.edu	37	7	142563798	142563798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:142563798G>A	ENST00000392957.2	+	9	1973	c.1186G>A	c.(1186-1188)Ggg>Agg	p.G396R	EPHB6_ENST00000442129.1_Missense_Mutation_p.G396R|EPHB6_ENST00000411471.2_Missense_Mutation_p.G119R	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	396	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCGGGAGCTGGGGGGTCGAGG	0.652																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1186-1188)Ggg>Agg		EPH receptor B6							26.0	24.0	25.0					7																	142563798		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142563798G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1186G>A	7.37:g.142563798G>A	ENSP00000376684:p.Gly396Arg					EPHB6_ENST00000411471.2_Missense_Mutation_p.G119R|EPHB6_ENST00000442129.1_Missense_Mutation_p.G396R	p.G396R	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			9	1973	+	Melanoma(164;0.059)		396			Fibronectin type-III 1.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1186G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005310	0.93287	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.57907	0.37;0.37;0.37	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42172	D	0.000751	T	0.77465	0.4134	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82835	-0.0261	10	0.87932	D	0	.	17.212	0.86932	0.0:0.0:1.0:0.0	.	396	O15197	EPHB6_HUMAN	R	396;396;119	ENSP00000376684:G396R;ENSP00000410789:G396R;ENSP00000409061:G119R	ENSP00000376684:G396R	G	+	1	0	EPHB6	142273920	1.000000	0.71417	0.983000	0.44433	0.945000	0.59286	9.808000	0.99193	2.289000	0.77006	0.462000	0.41574	GGG		0.652	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	19	0	0	0	1	0	7	19				
MS4A15	219995	broad.mit.edu	37	11	60531293	60531293	+	Silent	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:60531293G>T	ENST00000405633.3	+	2	166	c.87G>T	c.(85-87)ctG>ctT	p.L29L	MS4A15_ENST00000528170.1_Silent_p.L29L|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	29						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CGGCCATTCTGCCCACATCCA	0.617																																						ENST00000405633.3																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(85-87)ctG>ctT		membrane-spanning 4-domains, subfamily A, member 15							92.0	93.0	92.0					11																	60531293		2027	4165	6192	SO:0001819	synonymous_variant	219995					integral to membrane	receptor activity	g.chr11:60531293G>T	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.87G>T	11.37:g.60531293G>T						MS4A15_ENST00000528170.1_Silent_p.L29L|MS4A15_ENST00000337911.4_Intron	p.L29L	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN			2	166	+			29					A9UJY6|A9UJY7|F2Z2J5	Silent	SNP	ENST00000405633.3	37	c.87G>T	CCDS44617.1																																																																																				0.617	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			37	88	1	0	1.00953e-15	1	1.13866e-15	37	88				
RCE1	9986	broad.mit.edu	37	11	66612399	66612399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:66612399G>A	ENST00000309657.3	+	5	555	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	RCE1_ENST00000525356.1_Missense_Mutation_p.A48T|RCE1_ENST00000524506.1_Missense_Mutation_p.A171T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	171					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCAAGTGATCGCCCCGCTGAC	0.632																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(511-513)Gcc>Acc		Ras converting CAAX endopeptidase 1							37.0	36.0	36.0					11																	66612399		2200	4295	6495	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66612399G>A	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.511G>A	11.37:g.66612399G>A	ENSP00000309163:p.Ala171Thr					RCE1_ENST00000524506.1_Missense_Mutation_p.A171T|RCE1_ENST00000525356.1_Missense_Mutation_p.A48T	p.A171T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			5	555	+			171					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.511G>A	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714276	0.89112	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84334	0.0523	9	0.66056	D	0.02	-11.9072	14.627	0.68629	0.0:0.0:1.0:0.0	.	171	Q9Y256	FACE2_HUMAN	T	171;171;48	.	ENSP00000309163:A171T	A	+	1	0	RCE1	66368975	1.000000	0.71417	0.348000	0.25681	0.955000	0.61496	8.448000	0.90335	2.382000	0.81193	0.561000	0.74099	GCC		0.632	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		15	28	0	0	0	1	0	15	28				
ESPNP	284729	broad.mit.edu	37	1	17038456	17038459	+	RNA	DEL	CCTC	CCTC	-	rs71841759|rs530643659|rs563199204|rs529561322	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:17038456_17038459delCCTC	ENST00000492551.1	-	0	194					NR_026567.1				espin pseudogene																		TGTCCCTCTGCCTCCCTCCCTCCC	0.608																																						ENST00000492551.1																			0																																																			284729							g.chr1:17038456_17038459delCCTC	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17038464_17038467delCCTC								NR_026567.1						0	194	-									RNA	DEL	ENST00000492551.1	37																																																																																						0.608	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	3						4	3	---	---	---	---
AC144450.1	0	broad.mit.edu	37	2	1601146	1601147	+	RNA	DEL	AC	AC	-	rs201688027	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:1601146_1601147delAC	ENST00000438247.1	-	0	515																											CACAGATCAGacacacacacac	0.495														572	0.114217	0.0333	0.1138	5008	,	,		28615	0.1915		0.0606	False		,,,				2504	0.1994					ENST00000438247.1																			0																																																			0							g.chr2:1601146_1601147delAC																													2.37:g.1601156_1601157delAC														0	515	-									RNA	DEL	ENST00000438247.1	37																																																																																						0.495	AC144450.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000322440.1			2	4						2	4	---	---	---	---
EMX1	2016	broad.mit.edu	37	2	73145275	73145276	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:73145275_73145276insT	ENST00000258106.6	+	1	672_673	c.294_295insT	c.(295-297)ttcfs	p.F99fs	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	66					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						TCGTGAGTGGCTTCCCTgccgc	0.757																																						ENST00000258106.6																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(292-297)ggtcccfs		empty spiracles homeobox 1				148,1358		42,64,647						0.8	1.0			4	275,3749		71,133,1808	no	frameshift	EMX1	NM_004097.2		113,197,2455	A1A1,A1R,RR		6.834,9.8274,7.6492				423,5107				SO:0001589	frameshift_variant	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73145275_73145276insT	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.296dupT	2.37:g.73145277_73145277dupT	ENSP00000258106:p.Phe99fs					EMX1_ENST00000394111.5_Intron	p.P99fs	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN			1	672_673	+			66					Q0D2P0|Q53T30|Q86XB0	Frame_Shift_Ins	INS	ENST00000258106.6	37	c.294_295insT	CCDS1921.2																																																																																				0.757	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			5	8						5	8	---	---	---	---
RBMS3-AS3	100873979	broad.mit.edu	37	3	29308455	29308456	+	RNA	INS	-	-	ACACAC	rs35874448|rs10627992		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:29308455_29308456insACACAC	ENST00000413430.1	-	0	49									RBMS3 antisense RNA 3																		TAAGAGTTGGGacacacacaca	0.426																																						ENST00000413430.1																			0																																																			100873979							g.chr3:29308455_29308456insACACAC			3p24.1	2012-10-12	2012-08-15		ENSG00000235904	ENSG00000235904		"""Long non-coding RNAs"""	39989	non-coding RNA	RNA, long non-coding			"""RBMS3 antisense RNA 3 (non-protein coding)"""				Standard	NR_109804		Approved				OTTHUMG00000155693		3.37:g.29308456_29308461dupACACAC														0	49	-									RNA	INS	ENST00000413430.1	37																																																																																						0.426	RBMS3-AS3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000341279.1			2	4						2	4	---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110763501	110763509	+	In_Frame_Del	DEL	AAAACGAGT	AAAACGAGT	-	rs149948718|rs367924021|rs146329765	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:110763501_110763509delAAAACGAGT	ENST00000368919.3	-	4	1187_1195	c.1121_1129delACTCGTTTT	c.(1120-1131)tactcgttttcc>tcc	p.YSF374del	SLC22A16_ENST00000439654.1_In_Frame_Del_p.YSF374del|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000330550.4_In_Frame_Del_p.YSF340del	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	374					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GAATTCAAGGAAAACGAGTAGAATCCCAA	0.378																																						ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1120-1131)tcc>t		solute carrier family 22 (organic cation/carnitine transporter), member 16																																				SO:0001651	inframe_deletion	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110763501_110763509delAAAACGAGT		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1121_1129delACTCGTTTT	6.37:g.110763501_110763509delAAAACGAGT	ENSP00000357915:p.Tyr374_Phe376del					SLC22A16_ENST00000439654.1_In_Frame_Del_p.YSFS374del|SLC22A16_ENST00000330550.4_In_Frame_Del_p.YSFS340del	p.YSFS374del	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	4	1187_1195	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	374					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	In_Frame_Del	DEL	ENST00000368919.3	37	c.1121_1129delACTCGTTTT	CCDS5084.1																																																																																				0.378	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		13	76						13	76	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100403283	100403284	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:100403283_100403284insC	ENST00000358173.3	-	15	2985_2986	c.2517_2518insG	c.(2515-2520)ctgcccfs	p.P840fs	EPHB4_ENST00000360620.3_Frame_Shift_Ins_p.P840fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	840	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGGCGGGGGCAGCCGGTAGT	0.614																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2515-2520)ctccccfs		EPH receptor B4																																				SO:0001589	frameshift_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100403283_100403284insC	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2518dupG	7.37:g.100403284_100403284dupC	ENSP00000350896:p.Pro840fs					EPHB4_ENST00000360620.3_Frame_Shift_Ins_p.LP839fs	p.LP839fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			15	2985_2986	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		839			Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Frame_Shift_Ins	INS	ENST00000358173.3	37	c.2517_2518insG	CCDS5706.1																																																																																				0.614	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		25	95						25	95	---	---	---	---
COL26A1	136227	broad.mit.edu	37	7	101119424	101119425	+	RNA	DEL	TG	TG	-	rs56666965|rs372364030	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:101119424_101119425delTG	ENST00000397927.3	+	0	598				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											cccagctaattgtgtgtgtgtg	0.53																																						ENST00000313669.7																			0													collagen, type XXVI, alpha 1																																						136227							g.chr7:101119424_101119425delTG	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101119434_101119435delTG						COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA		NM_133457.2	NP_597714.2					0	577	+								Q32M90	RNA	DEL	ENST00000397927.3	37																																																																																						0.530	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		2	4						2	4	---	---	---	---
RP11-114L10.2	0	broad.mit.edu	37	7	142588377	142588378	+	RNA	INS	-	-	CA	rs568415138|rs376534822|rs59168085|rs548619682	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:142588377_142588378insCA	ENST00000438839.1	+	0	99																											acaccccataccacacacacac	0.515																																						ENST00000438839.1																			0																																																			0							g.chr7:142588377_142588378insCA																													7.37:g.142588386_142588387dupCA														0	99	+									RNA	INS	ENST00000438839.1	37																																																																																						0.515	RP11-114L10.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000347659.1			3	6						3	6	---	---	---	---
RP11-513H8.1	0	broad.mit.edu	37	8	135234457	135234458	+	lincRNA	INS	-	-	AC	rs369623364|rs541025193|rs369980101|rs201471630|rs57377588	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:135234457_135234458insAC	ENST00000523317.1	-	0	84																											ataaagatcatacacacacaca	0.371																																						ENST00000523317.1																			0																																																			0							g.chr8:135234457_135234458insAC																													8.37:g.135234466_135234467dupAC														0	84	-									RNA	INS	ENST00000523317.1	37																																																																																						0.371	RP11-513H8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378268.1			3	3						3	3	---	---	---	---
LOC101928381	101928381	broad.mit.edu	37	9	70117457	70117458	+	RNA	INS	-	-	G	rs371570854|rs201517130|rs200463739		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr9:70117457_70117458insG	ENST00000588215.1	-	0	82																											aagaaagaaaaaGAGAGAGAGA	0.465																																						ENST00000588215.1																			0																																																			101928381							g.chr9:70117457_70117458insG																													9.37:g.70117457_70117458insG														0	82	-									RNA	INS	ENST00000588215.1	37																																																																																						0.465	RP11-15J10.8-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453138.1			2	4						2	4	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88767686	88767686	+	RNA	DEL	T	T	-	rs367961074		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:88767686delT	ENST00000444431.1	+	0	2711				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AAAATGTATCttttttttttt	0.413																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88767686delT			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88767686delT						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	2711	+								B9EIP7|D3DWE4	RNA	DEL	ENST00000444431.1	37																																																																																						0.413	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		2	4						2	4	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763|rs144216147	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)ggctgtggadel	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(121-129)del		keratin associated protein 5-5				727,2515		74,579,968						1.8	0.6		dbSNP_130	24	1587,5219		143,1301,1959	no	coding	KRTAP5-5	NM_001001480.2		217,1880,2927	A1A1,A1R,RR		23.3177,22.4244,23.0295				2314,7734				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651191_1651199delGGCTGTGGA	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.121_129delGGCTGTGGA	11.37:g.1651191_1651199delGGCTGTGGA	ENSP00000382584:p.Gly47_Gly49del						p.GCG47del	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	159_167	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	47					A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.121_129delGGCTGTGGA	CCDS41592.1																																																																																				0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			25	17						25	17	---	---	---	---
KRTAP5-10	387273	broad.mit.edu	37	11	71276657	71276658	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCGGCTGTGGG	rs71049990|rs200855172	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	ENST00000398531.1	+	1	49_50	c.24_25insGGCTGTGGCTCCGGCTGTGGG	c.(25-27)ggc>GGCTGTGGCTCCGGCTGTGGGggc	p.9_9G>GCGSGCGG	KRTAP5-10_ENST00000376536.4_In_Frame_Ins_p.9_9G>GCGSGCGG	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	9						keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCTCCGGAGGCTGTGGCTC	0.668														2222	0.44369	0.5129	0.5231	5008	,	,		8015	0.5258		0.3807	False		,,,				2504	0.274					ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(22-27)gggctg>ggGGCTGTGGCTCCGGCTGTGGGgctg		keratin associated protein 5-10																																				SO:0001652	inframe_insertion	387273					keratin filament		g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.25_45dupGGCTGTGGCTCCGGCTGTGGG	11.37:g.71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	Exception_encountered					KRTAP5-10_ENST00000376536.4_In_Frame_Ins_p.7_8insGAVAPAV	p.7_8insGAVAPAV	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	49_50	+			7					B9EHA4	In_Frame_Ins	INS	ENST00000398531.1	37	c.24_25insGGCTGTGGCTCCGGCTGTGGG	CCDS41684.1																																																																																				0.668	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			46	96						46	96	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89409121	89409121	+	RNA	DEL	C	C	-	rs182079375|rs111654563	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:89409121delC	ENST00000532352.1	+	0	1197							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCTTTCAAAGCAGCTCTTTTA	0.294													C|C|-|deletion	27	0.00539137	0.0182	0.0043	5008	,	,		17734	0.0		0.0	False		,,,				2504	0.0					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89409121delC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89409121delC										Q9HBA9	FOH1B_HUMAN			0	1197	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.294	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	5						3	5	---	---	---	---
RP11-370I10.2	0	broad.mit.edu	37	12	48661150	48661151	+	lincRNA	INS	-	-	CTTCCTTCCTTCCTTC			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:48661150_48661151insCTTCCTTCCTTCCTTC	ENST00000547523.1	-	0	269																											ttccttccttccttccttcctt	0.386																																						ENST00000547523.1																			0																																																			0							g.chr12:48661150_48661151insCTTCCTTCCTTCCTTC																													12.37:g.48661150_48661151insCTTCCTTCCTTCCTTC														0	269	-									RNA	INS	ENST00000547523.1	37																																																																																						0.386	RP11-370I10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000406515.1			2	4						2	4	---	---	---	---
RP11-148E17.1	0	broad.mit.edu	37	14	29485098	29485105	+	lincRNA	DEL	TGTGTATA	TGTGTATA	-	rs200249860|rs1307773|rs562824032|rs138213116	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:29485098_29485105delTGTGTATA	ENST00000551227.1	+	0	418																											tgtgtgtgtgtgtgtatatatatatata	0.317																																						ENST00000551227.1																			0																																																			0							g.chr14:29485098_29485105delTGTGTATA																													14.37:g.29485098_29485105delTGTGTATA														0	418	+									RNA	DEL	ENST00000551227.1	37																																																																																						0.317	RP11-148E17.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000408712.1			4	4						4	4	---	---	---	---
SAMD4A	23034	broad.mit.edu	37	14	55227104	55227114	+	Frame_Shift_Del	DEL	AGCGGGGGGCT	AGCGGGGGGCT	-	rs202093286		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:55227104_55227114delAGCGGGGGGCT	ENST00000554335.1	+	7	2065_2075	c.1402_1412delAGCGGGGGGCT	c.(1402-1413)agcggggggctcfs	p.SGGL468fs	SAMD4A_ENST00000555192.1_Frame_Shift_Del_p.SGGL59fs|SAMD4A_ENST00000357634.3_Frame_Shift_Del_p.SGGL467fs|SAMD4A_ENST00000251091.5_Frame_Shift_Del_p.SGGL380fs|SAMD4A_ENST00000392067.3_Frame_Shift_Del_p.SGGL468fs			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	468					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.L470fs*44(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GGCCGGGGCCAGCGGGGGGCTCCAGCCGCAC	0.739																																						ENST00000251091.5																			1	Insertion - Frameshift(1)	p.L470fs*44(1)	central_nervous_system(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(1138-1149)cfs		sterile alpha motif domain containing 4A																																				SO:0001589	frameshift_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55227104_55227114delAGCGGGGGGCT	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1402_1412delAGCGGGGGGCT	14.37:g.55227104_55227114delAGCGGGGGGCT	ENSP00000452535:p.Ser468fs					SAMD4A_ENST00000357634.3_Frame_Shift_Del_p.SGGL467fs|SAMD4A_ENST00000554335.1_Frame_Shift_Del_p.SGGL468fs|SAMD4A_ENST00000555192.1_Frame_Shift_Del_p.SGGL59fs|SAMD4A_ENST00000392067.3_Frame_Shift_Del_p.SGGL468fs	p.SGGL380fs	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			5	1443_1453	+			468			SAM.		A8MPZ5|Q0VA96|Q6PEW4	Frame_Shift_Del	DEL	ENST00000554335.1	37	c.1138_1148delAGCGGGGGGCT	CCDS32084.2																																																																																				0.739	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		7	18						7	18	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1				hect domain and RLD 2 pseudogene 9																		actctgtctcaaaaaaaaaaa	0.413																																						ENST00000528584.1																			0																																																			440248							g.chr15:28900331delA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900331delA								NR_036443.1						0	14	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.413	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		3	3						3	3	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72186069	72186071	+	In_Frame_Del	DEL	TCT	TCT	-	rs150726107	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:72186069_72186071delTCT	ENST00000356056.5	-	26	5563_5565	c.5091_5093delAGA	c.(5089-5094)gaagat>gat	p.E1697del	MYO9A_ENST00000424560.1_In_Frame_Del_p.E1697del|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_In_Frame_Del_p.E1678del|MYO9A_ENST00000564571.1_In_Frame_Del_p.E1697del	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1697	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCTGGTTCATCTTCTTTATGGA	0.355																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(5089-5094)gat>ga		myosin IXA																																				SO:0001651	inframe_deletion	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72186069_72186071delTCT	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5091_5093delAGA	15.37:g.72186072_72186074delTCT	ENSP00000348349:p.Glu1697del					MYO9A_ENST00000564571.1_In_Frame_Del_p.ED1697del|MYO9A_ENST00000424560.1_In_Frame_Del_p.ED1697del|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_In_Frame_Del_p.ED1678del	p.ED1697del	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			26	5563_5565	-			1697			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	In_Frame_Del	DEL	ENST00000356056.5	37	c.5091_5093delAGA	CCDS10239.1																																																																																				0.355	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		20	55						20	55	---	---	---	---
RAB40B	10966	broad.mit.edu	37	17	80615785	80615786	+	Frame_Shift_Ins	INS	-	-	G	rs111549422	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:80615785_80615786insG	ENST00000571995.1	-	6	921_922	c.790_791insC	c.(790-792)cagfs	p.Q264fs	RAB40B_ENST00000269347.6_Frame_Shift_Ins_p.Q85fs|RAB40B_ENST00000571880.1_5'Flank	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	264					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.Q264P(1)|p.Q264fs*>15(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGGGGGGCTCTGGGGGGGGCGG	0.569																																						ENST00000571995.1																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.Q264P(1)|p.Q264fs*>15(1)	ovary(1)|central_nervous_system(1)	central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10						c.(790-792)gagfs		RAB40B, member RAS oncogene family																																				SO:0001589	frameshift_variant	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80615785_80615786insG	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.791dupC	17.37:g.80615793_80615793dupG	ENSP00000461785:p.Gln264fs					RAB40B_ENST00000538809.2_IGR|RAB40B_ENST00000269347.6_Frame_Shift_Ins_p.E85fs	p.E264fs	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	921_922	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	264					Q8WVG3	Frame_Shift_Ins	INS	ENST00000571995.1	37	c.790_791insC	CCDS11816.1																																																																																				0.569	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			14	220						14	220	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11061211	11061212	+	RNA	DEL	AA	AA	-	rs77134220|rs113128580|rs61008172|rs58888936|rs58515226	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr21:11061211_11061212delAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tataaaaattaaaaaaaaaaaa	0.351																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11061211_11061212delAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11061221_11061222delAA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.351	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	3						3	3	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11067986	11067986	+	RNA	DEL	C	C	-	rs112970011		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr21:11067986delC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACTCAGCTTCTTAAAAGTTT	0.299																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11067986delC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11067986delC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.299	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11090317	11090318	+	RNA	DEL	AA	AA	-	rs149867389|rs552608620|rs75769585|rs139445880|rs78202010	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr21:11090317_11090318delAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		actgcatctcaaaaaaaaaaaa	0.45																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11090317_11090318delAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11090327_11090328delAA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.450	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
AP001347.6	0	broad.mit.edu	37	21	15470565	15470566	+	RNA	INS	-	-	A	rs375234019		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr21:15470565_15470566insA	ENST00000428809.1	+	0	372				AP001347.6_ENST00000432621.1_RNA																							ccaccatcaccaccatcaccat	0.47																																						ENST00000428809.1																			0																																																			0							g.chr21:15470565_15470566insA																													21.37:g.15470566_15470566dupA														0	372	+									RNA	INS	ENST00000428809.1	37																																																																																						0.470	AP001347.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000157812.1			3	6						3	6	---	---	---	---
CRELD2	79174	broad.mit.edu	37	22	50315936	50315973	+	Intron	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs377640443|rs562885075|rs542695980|rs113299196|rs7410276|rs12160965|rs371945800|rs386822607|rs386822606|rs564615833|rs368043307|rs71805922|rs386822608|rs73891177|rs553609580	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000328268.4	+	6	666				CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000404488.3_Splice_Site_p.PQQSGPASPI198fs|CRELD2_ENST00000407217.3_Intron	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2							endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622																																						ENST00000404488.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9						c.e6-1		cysteine-rich with EGF-like domains 2			,	660,2750		176,308,1221					,	-1.2	0.0		dbSNP_130	26	366,6880		58,250,3315	no	intron,frameshift-near-splice	CRELD2	NM_024324.3,NM_001135101.1	,	234,558,4536	A1A1,A1R,RR		5.0511,19.3548,9.6284	,	,		1026,9630				SO:0001627	intron_variant	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.593-287CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG>-	22.37:g.50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG						CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000328268.4_Intron|CRELD2_ENST00000407217.3_Intron	p.198_splice	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	6	727_756	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	197					A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Splice_Site	DEL	ENST00000328268.4	37	c.592_splice	CCDS14082.1																																																																																				0.622	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		7	14						7	14	---	---	---	---
