#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
TXNDC2	84203	broad.mit.edu	37	18	9887808	9887808	+	Silent	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr18:9887808C>T	ENST00000306084.6	+	2	1531	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Silent_p.F377F	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	444	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CAATGGAGTTCCCGGAGGGGG	0.572																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1330-1332)ttC>ttT		thioredoxin domain containing 2 (spermatozoa)							55.0	54.0	54.0					18																	9887808		2203	4300	6503	SO:0001819	synonymous_variant	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887808C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1332C>T	18.37:g.9887808C>T						TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.F377F|TXNDC2_ENST00000577697.1_3'UTR	p.F444F	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1531	+			444			Thioredoxin.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.1332C>T	CCDS42414.1																																																																																				0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			15	38	0	0	0	0.119110	0	15	38				
RAD51AP2	729475	broad.mit.edu	37	2	17698606	17698606	+	Silent	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr2:17698606A>G	ENST00000399080.2	-	1	1100	c.1077T>C	c.(1075-1077)aaT>aaC	p.N359N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	359										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTCTCTTACATTACACTGGA	0.378																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1075-1077)aaT>aaC		RAD51 associated protein 2							57.0	55.0	55.0					2																	17698606		1823	4082	5905	SO:0001819	synonymous_variant	729475							g.chr2:17698606A>G	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1077T>C	2.37:g.17698606A>G							p.N359N	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	1100	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		359						Silent	SNP	ENST00000399080.2	37	c.1077T>C	CCDS42656.1																																																																																				0.378	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		5	122	0	0	0	0.014758	0	5	122				
FMN2	56776	broad.mit.edu	37	1	240371134	240371134	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:240371134A>G	ENST00000319653.9	+	5	3252	c.3022A>G	c.(3022-3024)Ata>Gta	p.I1008V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1008	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAGCGGGCATACCCCCTCC	0.716																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3022-3024)Ata>Gta		formin 2							3.0	4.0	3.0					1																	240371134		1552	3420	4972	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371134A>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3022A>G	1.37:g.240371134A>G	ENSP00000318884:p.Ile1008Val						p.I1008V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3252	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1008			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3022A>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	6.788	0.514451	0.12944	.	.	ENSG00000155816	ENST00000319653	T	0.52295	0.67	3.48	2.36	0.29203	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.494340	0.18539	N	0.138256	T	0.31295	0.0792	L	0.31845	0.965	0.09310	N	0.999999	B	0.12013	0.005	B	0.15484	0.013	T	0.10132	-1.0643	9	.	.	.	.	7.0981	0.25321	0.8207:0.0:0.1793:0.0	.	1008	Q9NZ56	FMN2_HUMAN	V	1008	ENSP00000318884:I1008V	.	I	+	1	0	FMN2	238437757	0.469000	0.25846	0.036000	0.18154	0.010000	0.07245	1.694000	0.37752	1.592000	0.50018	0.392000	0.25879	ATA		0.716	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		2	4	0	0	0	0.115264	0	2	4				
IKBIP	121457	broad.mit.edu	37	12	99019997	99019997	+	Intron	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr12:99019997G>A	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Missense_Mutation_p.S282F|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCTGAGAACAGAGTGAATAGC	0.378																																						ENST00000299157.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(844-846)tCt>tTt		IKBKB interacting protein							94.0	92.0	92.0					12																	99019997		2203	4299	6502	SO:0001627	intron_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99019997G>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8076C>T	12.37:g.99019997G>A						IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000342502.2_Intron	p.S282F	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN			3	1218	-			286					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.845C>T	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208085	0.58343	.	.	ENSG00000166130	ENST00000299157	T	0.54279	0.58	5.54	5.54	0.83059	.	0.840403	0.11160	N	0.593191	T	0.76572	0.4006	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.75499	-0.3296	9	0.87932	D	0	-4.3893	19.454	0.94880	0.0:0.0:1.0:0.0	.	282	Q70UQ0-4	.	F	282	ENSP00000299157:S282F	ENSP00000299157:S282F	S	-	2	0	IKBIP	97544128	1.000000	0.71417	0.550000	0.28217	0.331000	0.28603	8.271000	0.89883	2.596000	0.87737	0.655000	0.94253	TCT		0.378	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		26	114	0	0	0	0.091800	0	26	114				
PTPRU	10076	broad.mit.edu	37	1	29647213	29647213	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:29647213C>T	ENST00000345512.3	+	27	3863	c.3734C>T	c.(3733-3735)gCg>gTg	p.A1245V	PTPRU_ENST00000428026.2_Missense_Mutation_p.A1232V|PTPRU_ENST00000356870.3_Missense_Mutation_p.A1241V|PTPRU_ENST00000460170.2_Missense_Mutation_p.A1241V|PTPRU_ENST00000373779.3_Missense_Mutation_p.A1235V|PTPRU_ENST00000323874.8_Missense_Mutation_p.A1241V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1245	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.			A -> R (in Ref. 4; AAC51938). {ECO:0000305}.	canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACACGGAGTGCGGCCTTCATC	0.657																																						ENST00000356870.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(3721-3723)gCg>gTg		protein tyrosine phosphatase, receptor type, U							71.0	66.0	67.0					1																	29647213		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29647213C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3734C>T	1.37:g.29647213C>T	ENSP00000334941:p.Ala1245Val					PTPRU_ENST00000428026.2_Missense_Mutation_p.A1232V|PTPRU_ENST00000373779.3_Missense_Mutation_p.A1235V|PTPRU_ENST00000345512.3_Missense_Mutation_p.A1245V|PTPRU_ENST00000460170.2_Missense_Mutation_p.A1241V|PTPRU_ENST00000323874.8_Missense_Mutation_p.A1241V	p.A1241V	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	27	3832	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1245			Tyrosine-protein phosphatase 2.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.3722C>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026499	0.75390	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.24	4.24	0.50183	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	M	0.62266	1.93	0.58432	D	0.999996	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998	P;P;P;D;D	0.65443	0.892;0.892;0.892;0.935;0.935	D	0.88383	0.3003	9	.	.	.	.	16.1698	0.81801	0.0:1.0:0.0:0.0	.	1232;1241;1235;1241;1245	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	1245;1235;1241;1241;1232;1241	ENSP00000334941:A1245V;ENSP00000362884:A1235V;ENSP00000349333:A1241V;ENSP00000314987:A1241V;ENSP00000392332:A1232V;ENSP00000432906:A1241V	.	A	+	2	0	PTPRU	29519800	1.000000	0.71417	0.976000	0.42696	0.362000	0.29581	7.651000	0.83577	2.354000	0.79902	0.462000	0.41574	GCG		0.657	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			3	64	0	0	0	0.115264	0	3	64				
HNRNPK	3190	broad.mit.edu	37	9	86587818	86587818	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:86587818C>T	ENST00000376264.2	-	10	844	c.586G>A	c.(586-588)Gga>Aga	p.G196R	RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376263.3_Missense_Mutation_p.G196R|HNRNPK_ENST00000351839.3_Missense_Mutation_p.G196R|HNRNPK_ENST00000376281.4_Missense_Mutation_p.G196R|HNRNPK_ENST00000360384.5_Missense_Mutation_p.G196R	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	196	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGTTTTCCTCCAATAAGAACA	0.343																																						ENST00000376263.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						c.(586-588)Gga>Aga		heterogeneous nuclear ribonucleoprotein K							57.0	59.0	58.0					9																	86587818		2203	4300	6503	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86587818C>T		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.586G>A	9.37:g.86587818C>T	ENSP00000365440:p.Gly196Arg					HNRNPK_ENST00000360384.5_Missense_Mutation_p.G196R|HNRNPK_ENST00000376281.4_Missense_Mutation_p.G196R|HNRNPK_ENST00000376264.2_Missense_Mutation_p.G196R|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Missense_Mutation_p.G196R	p.G196R	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN			10	809	-			196			2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2.|Necessary for interaction with DDX1.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.586G>A	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751258	0.49257	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	5.13	5.13	0.70059	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	N	0.12887	0.27	0.80722	D	1	B;D;B;B;B;B;D;B	0.76494	0.004;0.997;0.017;0.017;0.02;0.01;0.999;0.025	B;D;B;B;B;B;D;B	0.74674	0.025;0.955;0.035;0.062;0.05;0.015;0.984;0.084	T	0.15607	-1.0431	10	0.15499	T	0.54	-1.6938	18.6033	0.91257	0.0:1.0:0.0:0.0	.	172;161;196;191;196;172;196;196	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	R	196;196;196;196;196;161;196;191;172;127	ENSP00000365458:G196R;ENSP00000365440:G196R;ENSP00000365439:G196R;ENSP00000317788:G196R;ENSP00000353552:G196R;ENSP00000409456:G172R	ENSP00000317788:G196R	G	-	1	0	HNRNPK	85777638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.375000	0.79646	2.375000	0.81037	0.655000	0.94253	GGA		0.343	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			30	52	0	0	0	0.045705	0	30	52				
MED25	81857	broad.mit.edu	37	19	50335647	50335647	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:50335647T>C	ENST00000312865.6	+	13	1510	c.1457T>C	c.(1456-1458)cTc>cCc	p.L486P	MED25_ENST00000538643.1_Missense_Mutation_p.L273P	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	486	Interaction with CREBBP.|Interaction with VP16.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CTCAAAGGCCTCTACCGCATC	0.577																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(1456-1458)cTc>cCc		mediator complex subunit 25							53.0	38.0	43.0					19																	50335647		2203	4300	6503	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50335647T>C	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1457T>C	19.37:g.50335647T>C	ENSP00000326767:p.Leu486Pro					MED25_ENST00000538643.1_Missense_Mutation_p.L273P	p.L486P	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	13	1510	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	486			Interaction with CREBBP.|Interaction with VP16.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.1457T>C	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644053	0.87859	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	D;D	0.90900	-2.75;-2.69	5.45	5.45	0.79879	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.000000	0.85682	D	0.000000	D	0.95007	0.8384	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95531	0.8603	10	0.87932	D	0	.	14.4951	0.67680	0.0:0.0:0.0:1.0	.	273;486;486	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	P	486;486;486;486;486;273;221	ENSP00000326767:L486P;ENSP00000437496:L273P	ENSP00000326767:L486P	L	+	2	0	MED25	55027459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.059000	0.76684	2.080000	0.62538	0.459000	0.35465	CTC		0.577	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		3	13	0	0	0	0.115264	0	3	13				
BOD1L1	259282	broad.mit.edu	37	4	13602337	13602337	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr4:13602337C>T	ENST00000040738.5	-	10	6322	c.6187G>A	c.(6187-6189)Ggg>Agg	p.G2063R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2063						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTTTACCCCCTGCTAAGCTA	0.433																																						ENST00000040738.5																			0											c.(6187-6189)Ggg>Agg		biorientation of chromosomes in cell division 1-like 1							93.0	91.0	92.0					4																	13602337		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13602337C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6187G>A	4.37:g.13602337C>T	ENSP00000040738:p.Gly2063Arg						p.G2063R	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	6322	-			2063					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6187G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766515	0.49574	.	.	ENSG00000038219	ENST00000040738	T	0.08720	3.06	5.47	3.75	0.43078	.	0.230615	0.30473	N	0.009557	T	0.06781	0.0173	L	0.33339	1.005	0.09310	N	1	B	0.32031	0.352	B	0.31614	0.133	T	0.28808	-1.0032	10	0.59425	D	0.04	-6.6675	7.0224	0.24922	0.131:0.6955:0.0:0.1734	.	2063	Q8NFC6	BOD1L_HUMAN	R	2063	ENSP00000040738:G2063R	ENSP00000040738:G2063R	G	-	1	0	BOD1L	13211435	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.087000	0.14958	0.676000	0.31285	0.555000	0.69702	GGG		0.433	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		15	37	0	0	0	0.146539	0	15	37				
NME8	51314	broad.mit.edu	37	7	37927910	37927910	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:37927910C>T	ENST00000199447.4	+	15	1651	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	NME8_ENST00000440017.1_Missense_Mutation_p.P427S|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	427	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GGACAGTTTGCCGGTCAACCA	0.368																																						ENST00000199447.4																			0											c.(1279-1281)Ccg>Tcg		NME/NM23 family member 8							98.0	96.0	96.0					7																	37927910		2203	4300	6503	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37927910C>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1279C>T	7.37:g.37927910C>T	ENSP00000199447:p.Pro427Ser					EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.P427S	p.P427S	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			15	1651	+			427			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1279C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001785	0.35320	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.52057	0.68;0.68	4.42	4.42	0.53409	.	0.957326	0.08619	N	0.918683	T	0.55721	0.1938	L	0.43554	1.36	0.32934	D	0.517549	P	0.38677	0.642	P	0.51550	0.673	T	0.54091	-0.8345	10	0.34782	T	0.22	-13.8286	12.7452	0.57278	0.0:0.8337:0.1663:0.0	.	427	Q8N427	TXND3_HUMAN	S	427	ENSP00000199447:P427S;ENSP00000397063:P427S	ENSP00000199447:P427S	P	+	1	0	TXNDC3	37894435	0.562000	0.26586	0.835000	0.33067	0.035000	0.12851	2.365000	0.44196	2.758000	0.94735	0.563000	0.77884	CCG		0.368	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		4	123	0	0	0	0.014758	0	4	123				
KIAA0100	9703	broad.mit.edu	37	17	26966605	26966605	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr17:26966605C>G	ENST00000528896.2	-	10	1145	c.1071G>C	c.(1069-1071)aaG>aaC	p.K357N	KIAA0100_ENST00000389003.3_Missense_Mutation_p.K214N|KIAA0100_ENST00000544884.1_Missense_Mutation_p.K214N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	357						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCACACTAGCCTTGAGGGAGT	0.473																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(1069-1071)aaG>aaC		KIAA0100							143.0	126.0	132.0					17																	26966605		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26966605C>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1071G>C	17.37:g.26966605C>G	ENSP00000436773:p.Lys357Asn					KIAA0100_ENST00000544884.1_Missense_Mutation_p.K214N|KIAA0100_ENST00000389003.3_Missense_Mutation_p.K214N	p.K357N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			10	1145	-	Lung NSC(42;0.00431)		357					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1071G>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316529	0.40996	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.31247	1.75;1.5	5.78	0.442	0.16582	FMP27, N-terminal (1);	0.097007	0.64402	D	0.000001	T	0.15782	0.0380	N	0.17082	0.46	0.35568	D	0.805237	P;B	0.51537	0.946;0.029	B;B	0.42555	0.391;0.044	T	0.26608	-1.0098	10	0.16420	T	0.52	-1.0901	9.447	0.38703	0.0:0.6044:0.0:0.3955	.	357;357	F6XS94;Q14667	.;K0100_HUMAN	N	357;357;357;214	ENSP00000436773:K357N;ENSP00000446443:K214N	ENSP00000005905:K357N	K	-	3	2	KIAA0100	23990732	0.942000	0.31987	0.996000	0.52242	0.992000	0.81027	0.078000	0.14761	-0.095000	0.12351	0.591000	0.81541	AAG		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		25	42	0	0	0	0.076483	0	25	42				
VSIG8	391123	broad.mit.edu	37	1	159827673	159827673	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:159827673C>G	ENST00000368100.1	-	4	649	c.514G>C	c.(514-516)Ggc>Cgc	p.G172R	C1orf204_ENST00000491974.1_5'Flank|C1orf204_ENST00000368102.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	172	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					GGCTGGGAGCCCCCACTGGCA	0.587																																						ENST00000368100.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(514-516)Ggc>Cgc		V-set and immunoglobulin domain containing 8							70.0	68.0	69.0					1																	159827673		2203	4300	6503	SO:0001583	missense	391123					integral to membrane		g.chr1:159827673C>G		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.514G>C	1.37:g.159827673C>G	ENSP00000357080:p.Gly172Arg						p.G172R	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN			4	649	-	all_hematologic(112;0.0597)		172			Ig-like V-type 2.		Q5VU14	Missense_Mutation	SNP	ENST00000368100.1	37	c.514G>C	CCDS30913.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071644	0.76301	.	.	ENSG00000243284	ENST00000368100	T	0.02709	4.19	5.15	5.15	0.70609	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051680	0.85682	D	0.000000	T	0.13713	0.0332	M	0.90870	3.155	0.51012	D	0.999902	D	0.89917	1.0	D	0.85130	0.997	T	0.00660	-1.1622	10	0.87932	D	0	.	14.1485	0.65367	0.0:1.0:0.0:0.0	.	172	Q5VU13	VSIG8_HUMAN	R	172	ENSP00000357080:G172R	ENSP00000357080:G172R	G	-	1	0	VSIG8	158094297	0.995000	0.38212	1.000000	0.80357	0.958000	0.62258	2.759000	0.47573	2.409000	0.81822	0.561000	0.74099	GGC		0.587	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		9	55	0	0	0	0.047766	0	9	55				
ACTN4	81	broad.mit.edu	37	19	39214837	39214837	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:39214837C>T	ENST00000252699.2	+	15	1809	c.1733C>T	c.(1732-1734)cCg>cTg	p.P578L	ACTN4_ENST00000424234.2_Missense_Mutation_p.P188L|ACTN4_ENST00000390009.3_Missense_Mutation_p.P359L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	578					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCACCCTGCCGGACGCCGAT	0.647																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(1732-1734)cCg>cTg		actinin, alpha 4							56.0	58.0	58.0					19																	39214837		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39214837C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1733C>T	19.37:g.39214837C>T	ENSP00000252699:p.Pro578Leu					ACTN4_ENST00000424234.2_Missense_Mutation_p.P188L|ACTN4_ENST00000390009.3_Missense_Mutation_p.P359L	p.P578L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		15	1809	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		578					A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.1733C>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376699	0.24857	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	3.75	3.75	0.43078	.	0.326765	0.28354	N	0.015645	T	0.77903	0.4200	M	0.81682	2.555	0.58432	D	0.999993	P	0.44690	0.841	P	0.48425	0.577	T	0.82959	-0.0198	10	0.72032	D	0.01	.	14.8549	0.70329	0.0:1.0:0.0:0.0	.	578	O43707	ACTN4_HUMAN	L	578;188;359;14	ENSP00000252699:P578L;ENSP00000411187:P188L;ENSP00000439497:P359L;ENSP00000398393:P14L	ENSP00000252699:P578L	P	+	2	0	ACTN4	43906677	0.998000	0.40836	0.912000	0.35992	0.040000	0.13550	3.857000	0.55972	2.106000	0.64143	0.561000	0.74099	CCG		0.647	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			22	52	0	0	0	0.083992	0	22	52				
SNW1	22938	broad.mit.edu	37	14	78221407	78221407	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr14:78221407G>T	ENST00000261531.7	-	2	133	c.71C>A	c.(70-72)gCa>gAa	p.A24E	SNW1_ENST00000555761.1_Missense_Mutation_p.A24E|SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	24					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTGGGATCTTGCCTTTTCTTC	0.458																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(70-72)gCa>gAa		SNW domain containing 1							71.0	62.0	65.0					14																	78221407		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78221407G>T	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.71C>A	14.37:g.78221407G>T	ENSP00000261531:p.Ala24Glu					SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A24E	p.A24E	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	2	133	-			24					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.71C>A	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591163	0.46214	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	6.04	6.04	0.98038	.	0.283792	0.41097	D	0.000957	T	0.20373	0.0490	N	0.02368	-0.58	0.40547	D	0.981081	P;B	0.35944	0.529;0.18	B;B	0.33454	0.164;0.017	T	0.30297	-0.9983	9	0.07325	T	0.83	.	13.7331	0.62802	0.0698:0.0:0.9302:0.0	.	24;24	G3V3A4;Q13573	.;SNW1_HUMAN	E	24	.	ENSP00000261531:A24E	A	-	2	0	SNW1	77291160	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.438000	0.59961	2.873000	0.98535	0.561000	0.74099	GCA		0.458	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		12	7	1	0	0.00010058	0.093190	0.000110638	12	7				
ZIC5	85416	broad.mit.edu	37	13	100617841	100617841	+	Silent	SNP	T	T	C	rs201281552		TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr13:100617841T>C	ENST00000267294.4	-	2	2015	c.1782A>G	c.(1780-1782)ccA>ccG	p.P594P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	594					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCGCCCACTGGAGTCCCCA	0.597																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1780-1782)ccA>ccG		Zic family member 5							94.0	97.0	96.0					13																	100617841		2203	4300	6503	SO:0001819	synonymous_variant	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617841T>C	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1782A>G	13.37:g.100617841T>C							p.P594P	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	2015	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		594					Q5VYB0	Silent	SNP	ENST00000267294.4	37	c.1782A>G	CCDS9494.2																																																																																				0.597	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		63	92	0	0	0	0.139131	0	63	92				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	16	0	0	0	0.115264	0	3	16				
SPOCD1	90853	broad.mit.edu	37	1	32279573	32279573	+	Silent	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:32279573G>A	ENST00000360482.2	-	2	1491	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	SPOCD1_ENST00000373648.2_Silent_p.S454S|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Silent_p.S454S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	454					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCCTCCTGGGCTGGGTTCCT	0.552																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(1360-1362)agC>agT		SPOC domain containing 1							75.0	79.0	78.0					1																	32279573		2203	4300	6503	SO:0001819	synonymous_variant	90853				transcription, DNA-dependent			g.chr1:32279573G>A	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1362C>T	1.37:g.32279573G>A						SPOCD1_ENST00000533231.1_Silent_p.S454S|SPOCD1_ENST00000373648.2_Silent_p.S454S|SPOCD1_ENST00000257100.3_Intron	p.S454S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	2	1491	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	454					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	c.1362C>T	CCDS347.1																																																																																				0.552	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		45	100	0	0	0	0.139131	0	45	100				
ITIH2	3698	broad.mit.edu	37	10	7762870	7762870	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr10:7762870G>A	ENST00000358415.4	+	7	848	c.682G>A	c.(682-684)Gac>Aac	p.D228N	ITIH2_ENST00000379587.4_Missense_Mutation_p.D217N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	228					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCATGTTCCCGACACATTTGA	0.458																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(682-684)Gac>Aac		inter-alpha-trypsin inhibitor heavy chain 2							165.0	141.0	149.0					10																	7762870		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7762870G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.682G>A	10.37:g.7762870G>A	ENSP00000351190:p.Asp228Asn					ITIH2_ENST00000379587.4_Missense_Mutation_p.D217N	p.D228N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			7	848	+			228					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.682G>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	g	3.665	-0.068767	0.07228	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.17213	4.9;2.29;4.9	5.11	3.14	0.36123	.	0.328596	0.34245	N	0.004121	T	0.08403	0.0209	N	0.19112	0.55	0.22127	N	0.999347	B	0.14438	0.01	B	0.06405	0.002	T	0.29088	-1.0023	10	0.19590	T	0.45	-25.7802	4.3654	0.11222	0.2536:0.3157:0.4307:0.0	.	228	P19823	ITIH2_HUMAN	N	228;203;217	ENSP00000351190:D228N;ENSP00000388826:D203N;ENSP00000368906:D217N	ENSP00000351190:D228N	D	+	1	0	ITIH2	7802876	0.914000	0.31030	0.995000	0.50966	0.010000	0.07245	1.398000	0.34554	1.154000	0.42482	-0.372000	0.07161	GAC		0.458	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		4	108	0	0	0	0.009096	0	4	108				
CLK3	1198	broad.mit.edu	37	15	74922183	74922183	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr15:74922183G>A	ENST00000395066.3	+	13	2337	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K	CLK3_ENST00000345005.4_Missense_Mutation_p.E478K|CLK3_ENST00000352989.5_Missense_Mutation_p.E455K|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	626					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCTGACCCCTGAGGAGCGGTC	0.632																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(1876-1878)Gag>Aag		CDC-like kinase 3							26.0	22.0	24.0					15																	74922183		2195	4296	6491	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74922183G>A	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1876G>A	15.37:g.74922183G>A	ENSP00000378505:p.Glu626Lys					CLK3_ENST00000352989.5_Missense_Mutation_p.E455K|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.E478K	p.E626K	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			13	2337	+			626					D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.1876G>A	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589933	0.46214	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.20332	2.08;2.08	5.22	5.22	0.72569	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000003	T	0.17450	0.0419	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.30914	0.124;0.115;0.271;0.3	B;B;B;B	0.23419	0.021;0.043;0.046;0.046	T	0.05468	-1.0883	10	0.15499	T	0.54	.	18.3608	0.90374	0.0:0.0:1.0:0.0	.	626;331;405;455	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	K	478;478;626;455	ENSP00000344112:E478K;ENSP00000323106:E455K	ENSP00000344112:E478K	E	+	1	0	CLK3	72709236	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	4.067000	0.57527	2.452000	0.82932	0.555000	0.69702	GAG		0.632	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			9	7	0	0	0	0.069234	0	9	7				
AHNAK2	113146	broad.mit.edu	37	14	105415282	105415282	+	Missense_Mutation	SNP	C	C	T	rs552169427	byFrequency	TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr14:105415282C>T	ENST00000333244.5	-	7	6625	c.6506G>A	c.(6505-6507)gGc>gAc	p.G2169D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2169						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GATGGACTTGCCTGGGGCAGA	0.592													.|||	2	0.000399361	0.0015	0.0	5008	,	,		16867	0.0		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(6505-6507)gGc>gAc		AHNAK nucleoprotein 2							198.0	130.0	152.0					14																	105415282		1940	3978	5918	SO:0001583	missense	113146					nucleus		g.chr14:105415282C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6506G>A	14.37:g.105415282C>T	ENSP00000353114:p.Gly2169Asp					AHNAK2_ENST00000557457.1_Intron	p.G2169D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6625	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2169					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6506G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	11.09	1.536949	0.27475	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	3.83	1.92	0.25849	.	.	.	.	.	T	0.04861	0.0131	M	0.89904	3.07	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.32508	-0.9904	9	0.12430	T	0.62	.	7.1906	0.25824	0.0:0.7348:0.1708:0.0944	.	2169	Q8IVF2	AHNK2_HUMAN	D	2169	ENSP00000353114:G2169D	ENSP00000353114:G2169D	G	-	2	0	AHNAK2	104486327	0.022000	0.18835	0.034000	0.17996	0.072000	0.16883	1.742000	0.38248	0.283000	0.22279	-0.699000	0.03677	GGC		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	195	0	0	0	0.014758	0	5	195				
NCOR1	9611	broad.mit.edu	37	17	16075196	16075196	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr17:16075196A>T	ENST00000268712.3	-	4	613	c.356T>A	c.(355-357)tTt>tAt	p.F119Y	NCOR1_ENST00000395851.1_Missense_Mutation_p.F119Y|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	119	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACACGCTGAAAATGAGAATC	0.488																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(355-357)tTt>tAt		nuclear receptor corepressor 1							75.0	64.0	68.0					17																	16075196		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16075196A>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.356T>A	17.37:g.16075196A>T	ENSP00000268712:p.Phe119Tyr					NCOR1_ENST00000395851.1_Missense_Mutation_p.F119Y|NCOR1_ENST00000395848.1_Intron	p.F119Y	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	4	613	-			119			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.356T>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259473	0.59321	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.44482	0.92;1.52	5.81	5.81	0.92471	.	0.096122	0.64402	D	0.000001	T	0.41465	0.1160	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B;D	0.61697	0.001;0.001;0.035;0.001;0.069;0.99	B;B;B;B;B;P	0.56216	0.002;0.002;0.022;0.002;0.076;0.794	T	0.28776	-1.0033	10	0.34782	T	0.22	-7.8932	13.9077	0.63845	1.0:0.0:0.0:0.0	.	119;119;119;119;119;119	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	Y	119	ENSP00000268712:F119Y;ENSP00000379192:F119Y	ENSP00000268712:F119Y	F	-	2	0	NCOR1	16015921	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	5.587000	0.67510	2.210000	0.71456	0.533000	0.62120	TTT		0.488	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		12	19	0	0	0	0.080935	0	12	19				
CROCCP2	84809	broad.mit.edu	37	1	16956534	16956534	+	lincRNA	SNP	C	C	T	rs572780641	byFrequency	TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:16956534C>T	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GACGGCGCCACGCAGGTGTTC	0.602													.|||	124	0.0247604	0.0106	0.0447	5008	,	,		57354	0.0		0.0567	False		,,,				2504	0.0225					ENST00000412962.1																			0																																																			84809							g.chr1:16956534C>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.16956534C>T														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	26	0	0	0	0.009096	0	4	26				
DMXL1	1657	broad.mit.edu	37	5	118569034	118569034	+	Splice_Site	SNP	G	G	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr5:118569034G>T	ENST00000311085.8	+	38	8355		c.e38-1		DMXL1_ENST00000505312.1_Splice_Site|DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTGTAATGCAGATCTGACAGG	0.353																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.e38-1		Dmx-like 1							105.0	101.0	102.0					5																	118569034		2202	4300	6502	SO:0001630	splice_region_variant	1657							g.chr5:118569034G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8276-1G>T	5.37:g.118569034G>T						DMXL1_ENST00000539542.1_Splice_Site|DMXL1_ENST00000505312.1_Splice_Site		NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	38	8355	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)							Splice_Site	SNP	ENST00000311085.8	37		CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599992	0.87055	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9311	0.97118	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMXL1	118596933	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.400000	0.97290	2.714000	0.92807	0.655000	0.94253	.		0.353	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	Intron	33	73	1	0	2.09667e-21	0.064281	2.44611e-21	33	73				
LMTK2	22853	broad.mit.edu	37	7	97823182	97823182	+	Silent	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:97823182C>G	ENST00000297293.5	+	11	3698	c.3405C>G	c.(3403-3405)ccC>ccG	p.P1135P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1135					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGGAGCAGCCCCTACCCGAGC	0.582																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3403-3405)ccC>ccG		lemur tyrosine kinase 2							49.0	50.0	50.0					7																	97823182		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823182C>G	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3405C>G	7.37:g.97823182C>G							p.P1135P	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	3698	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1135					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.3405C>G	CCDS5654.1																																																																																				0.582	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		12	53	0	0	0	0.132662	0	12	53				
RBM28	55131	broad.mit.edu	37	7	127978320	127978320	+	Missense_Mutation	SNP	G	G	T	rs148752295		TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:127978320G>T	ENST00000223073.2	-	5	639	c.525C>A	c.(523-525)aaC>aaA	p.N175K	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	175	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTCTTTCATGTTCATGCCTT	0.393																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(523-525)aaC>aaA		RNA binding motif protein 28							124.0	116.0	119.0					7																	127978320		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127978320G>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.525C>A	7.37:g.127978320G>T	ENSP00000223073:p.Asn175Lys					RBM28_ENST00000415472.2_Intron	p.N175K	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			5	639	-			175			RRM 2.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.525C>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152302	0.78001	.	.	ENSG00000106344	ENST00000223073	T	0.79940	-1.32	5.74	2.91	0.33838	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86424	0.1756	10	0.54805	T	0.06	-26.0251	9.4249	0.38574	0.245:0.0:0.755:0.0	.	175	Q9NW13	RBM28_HUMAN	K	175	ENSP00000223073:N175K	ENSP00000223073:N175K	N	-	3	2	RBM28	127765556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.623000	0.37008	0.761000	0.33130	0.655000	0.94253	AAC		0.393	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		25	81	1	0	7.76418e-22	0.108266	9.19757e-22	25	81				
STAT5B	6777	broad.mit.edu	37	17	40362270	40362270	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr17:40362270T>C	ENST00000293328.3	-	15	1993	c.1825A>G	c.(1825-1827)Aac>Gac	p.N609D		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	609	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCTGGCTTGTTAATGAGTAGG	0.498																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1825-1827)Aac>Gac		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						141.0	122.0	129.0					17																	40362270		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40362270T>C	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1825A>G	17.37:g.40362270T>C	ENSP00000293328:p.Asn609Asp						p.N609D	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	15	1993	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	609			SH2.		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.1825A>G	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190172	0.58017	.	.	ENSG00000173757	ENST00000293328	T	0.54479	0.57	5.19	5.19	0.71726	SH2 motif (4);	0.137571	0.64402	D	0.000003	T	0.36552	0.0971	N	0.11255	0.115	0.36747	D	0.882542	B	0.20368	0.044	B	0.28465	0.09	T	0.36768	-0.9734	10	0.25751	T	0.34	-3.0911	15.2232	0.73330	0.0:0.0:0.0:1.0	.	609	P51692	STA5B_HUMAN	D	609	ENSP00000293328:N609D	ENSP00000293328:N609D	N	-	1	0	STAT5B	37615796	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.721000	0.61951	2.184000	0.69523	0.533000	0.62120	AAC		0.498	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		3	80	0	0	0	0.009096	0	3	80				
EXOSC8	11340	broad.mit.edu	37	13	37580102	37580102	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr13:37580102C>G	ENST00000389704.3	+	6	549	c.284C>G	c.(283-285)tCt>tGt	p.S95C	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	95					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		AGATTCCGGTCTGGACCTCCT	0.383																																						ENST00000389704.3																			0				biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7						c.(283-285)tCt>tGt		exosome component 8							86.0	86.0	86.0					13																	37580102		2203	4300	6503	SO:0001583	missense	11340				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding	g.chr13:37580102C>G	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.284C>G	13.37:g.37580102C>G	ENSP00000374354:p.Ser95Cys					EXOSC8_ENST00000489088.1_3'UTR	p.S95C	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)	6	549	+		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	95					O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	37	c.284C>G	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288643	0.80914	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.64438	-0.1	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.258350	0.48286	D	0.000199	T	0.70474	0.3228	M	0.65975	2.015	0.49299	D	0.99977	B;P	0.41498	0.431;0.752	P;B	0.45829	0.494;0.2	T	0.71938	-0.4441	10	0.66056	D	0.02	-8.7298	20.3539	0.98825	0.0:1.0:0.0:0.0	.	67;95	Q5JXM0;Q96B26	.;EXOS8_HUMAN	C	95;67	ENSP00000374354:S95C	ENSP00000369137:S67C	S	+	2	0	EXOSC8	36478102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.433000	0.80362	2.826000	0.97356	0.655000	0.94253	TCT		0.383	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503		3	77	0	0	0	0.009096	0	3	77				
CHERP	10523	broad.mit.edu	37	19	16636145	16636145	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:16636145C>T	ENST00000198939.6	-	10	1718	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.R550H					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CTGCATGAAGCGGGGCGGGAA	0.701																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1648-1650)cGc>cAc		calcium homeostasis endoplasmic reticulum protein							12.0	17.0	15.0					19																	16636145		1965	4100	6065	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16636145C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1682G>A	19.37:g.16636145C>T	ENSP00000198939:p.Arg561His					CHERP_ENST00000198939.6_Missense_Mutation_p.R561H|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	p.R550H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			10	1800	-			550			Pro-rich.			Missense_Mutation	SNP	ENST00000198939.6	37	c.1649G>A		.	.	.	.	.	.	.	.	.	.	C	15.87	2.960590	0.53400	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	D;D	0.86865	-2.18;-2.18	5.13	5.13	0.70059	.	.	.	.	.	T	0.75324	0.3834	L	0.29908	0.895	0.43632	D	0.996024	P	0.39181	0.663	B	0.28991	0.097	T	0.73512	-0.3959	9	0.19147	T	0.46	-20.338	11.1134	0.48246	0.0:0.9154:0.0:0.0846	.	550	Q8IWX8	CHERP_HUMAN	H	550;561	ENSP00000439856:R550H;ENSP00000198939:R561H	ENSP00000198939:R561H	R	-	2	0	CHERP	16497145	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	5.491000	0.66887	2.386000	0.81285	0.561000	0.74099	CGC		0.701	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		3	5	0	0	0	0.014758	0	3	5				
VHL	7428	broad.mit.edu	37	3	10183860	10183860	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr3:10183860A>C	ENST00000256474.2	+	1	1169	c.329A>C	c.(328-330)cAc>cCc	p.H110P	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.H110P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	110	Involved in binding to CCT complex.		H -> Y (in dbSNP:rs17855706). {ECO:0000269|PubMed:15489334}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)|p.H110fs*49(1)|p.H110P(1)|p.I109_R113del(1)|p.G106fs*49(1)|p.H110>RIN(1)|p.H110_S111del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCCGCATCCACAGCTACCGA	0.692		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		8	Deletion - Frameshift(2)|Deletion - In frame(2)|Unknown(2)|Substitution - Missense(1)|Complex - insertion inframe(1)	p.?(2)|p.H110fs*49(1)|p.H110P(1)|p.I109_R113del(1)|p.G106fs*49(1)|p.H110>RIN(1)|p.H110_S111del(1)	kidney(8)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769						c.(328-330)cAc>cCc		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							11.0	12.0	12.0					3																	10183860		1778	3722	5500	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10183860A>C	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.329A>C	3.37:g.10183860A>C	ENSP00000256474:p.His110Pro					VHL_ENST00000345392.2_Missense_Mutation_p.H110P	p.H110P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	1	1169	+			110		H -> Y (in dbSNP:rs17855706).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.329A>C	CCDS2597.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.5|24.5	4.534031|4.534031	0.85812|0.85812	.|.	.|.	ENSG00000134086|ENSG00000134086	ENST00000450183|ENST00000256474;ENST00000345392	.|D;D	.|0.99815	.|-6.9;-6.9	5.17|5.17	4.0|4.0	0.46444|0.46444	.|von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	.|0.287952	.|0.36778	.|N	.|0.002409	.|D	.|0.99257	.|0.9741	N|N	0.14661|0.14661	0.345|0.345	0.22728|0.22728	N|N	0.99881|0.99881	.|D;D	.|0.64830	.|0.994;0.98	.|P;D	.|0.65443	.|0.899;0.935	.|D	.|0.96691	.|0.9511	.|10	.|0.54805	.|T	.|0.06	.|-9.4471	9.4186|9.4186	0.38536|0.38536	0.9131:0.0:0.0869:0.0|0.9131:0.0:0.0869:0.0	.|.	.|110;110	.|P40337-2;P40337	.|.;VHL_HUMAN	.|P	-1|110	.|ENSP00000256474:H110P;ENSP00000344757:H110P	.|ENSP00000256474:H110P	.|H	+|+	.|2	.|0	VHL|VHL	10158860|10158860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.097000|2.097000	0.41748|0.41748	1.965000|1.965000	0.57142|0.57142	0.393000|0.393000	0.25936|0.25936	.|CAC		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		4	4	0	0	0	0.029380	0	4	4				
RBFA	79863	broad.mit.edu	37	18	77806138	77806138	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr18:77806138G>A	ENST00000306735.5	+	7	1153	c.1015G>A	c.(1015-1017)Gga>Aga	p.G339R	RP11-795F19.5_ENST00000564012.1_Intron|RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_3'UTR	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	339					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CCACAGCTGCGGAGCAAGCAG	0.582																																						ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(1015-1017)Gga>Aga		ribosome binding factor A (putative)							52.0	43.0	46.0					18																	77806138		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77806138G>A	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.1015G>A	18.37:g.77806138G>A	ENSP00000305696:p.Gly339Arg					RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_3'UTR	p.G339R	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN			7	1153	+			339					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.1015G>A	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	1.195	-0.634170	0.03584	.	.	ENSG00000101546	ENST00000306735	T	0.34667	1.35	2.68	-5.36	0.02689	.	21.516500	0.00166	N	0.000001	T	0.14013	0.0339	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19451	-1.0305	10	0.07644	T	0.81	.	3.931	0.09285	0.2406:0.0:0.438:0.3215	.	339	Q8N0V3	RBFA_HUMAN	R	339	ENSP00000305696:G339R	ENSP00000305696:G339R	G	+	1	0	RBFA	75907126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.415000	0.07106	-1.589000	0.01625	-2.032000	0.00423	GGA		0.582	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		3	34	0	0	0	0.115264	0	3	34				
SMIM14	201895	broad.mit.edu	37	4	39606801	39606801	+	Splice_Site	SNP	C	C	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr4:39606801C>A	ENST00000295958.5	-	2	352		c.e2-1		SMIM14_ENST00000510628.1_Intron|SMIM14_ENST00000511809.1_Splice_Site	NM_174921.1	NP_777581.1	Q96QK8	SIM14_HUMAN	small integral membrane protein 14							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CTGTTTAAATCTAGGAGGAAG	0.338																																						ENST00000295958.4																			0											c.e2-1		small integral membrane protein 14							74.0	67.0	69.0					4																	39606801		2203	4300	6503	SO:0001630	splice_region_variant	201895							g.chr4:39606801C>A	BC008502	CCDS3456.1	4p14	2014-02-10	2012-12-03	2012-12-03	ENSG00000163683	ENSG00000163683			27321	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 34"""	C4orf34		15231747, 24499674, 23759569	Standard	NM_174921		Approved	FLJ13289	uc003guo.3	Q96QK8	OTTHUMG00000128581	ENST00000295958.5:c.35-1G>T	4.37:g.39606801C>A						SMIM14_ENST00000511809.1_Splice_Site|SMIM14_ENST00000510628.1_Intron		NM_174921.1	NP_777581.1					2	352	-									Splice_Site	SNP	ENST00000295958.5	37		CCDS3456.1																																																																																				0.338	SMIM14-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250434.4	NM_174921	Intron	17	47	1	0	0.00498961	0.033300	0.00526301	17	47				
TBCE	6905	broad.mit.edu	37	1	235599139	235599139	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:235599139A>C	ENST00000366601.3	+	9	993	c.817A>C	c.(817-819)Ata>Cta	p.I273L	TBCE_ENST00000406207.1_Missense_Mutation_p.I273L|TBCE_ENST00000543662.1_Missense_Mutation_p.I324L|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	273					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GCTGTATCTGATAGCCCACCT	0.363																																						ENST00000543662.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14						c.(970-972)Ata>Cta		tubulin folding cofactor E							112.0	114.0	114.0					1																	235599139		2203	4300	6503	SO:0001583	missense	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235599139A>C	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.817A>C	1.37:g.235599139A>C	ENSP00000355560:p.Ile273Leu					TBCE_ENST00000366601.3_Missense_Mutation_p.I273L|TBCE_ENST00000406207.1_Missense_Mutation_p.I273L|TBCE_ENST00000472011.1_3'UTR	p.I324L			Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		10	1076	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	273					A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	c.970A>C	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	A	3.817	-0.038554	0.07497	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.27557	2.08;2.08;1.66	5.73	3.25	0.37280	.	0.142352	0.64402	D	0.000009	T	0.13329	0.0323	N	0.05574	-0.02	0.49483	D	0.999796	B;B;B	0.22003	0.063;0.027;0.002	B;B;B	0.20577	0.03;0.018;0.004	T	0.12218	-1.0556	10	0.02654	T	1	-25.4684	12.3045	0.54893	0.7326:0.2674:0.0:0.0	.	324;273;273	B7Z3P1;A8K8C2;Q15813	.;.;TBCE_HUMAN	L	273;273;324	ENSP00000355560:I273L;ENSP00000384571:I273L;ENSP00000439170:I324L	ENSP00000355560:I273L	I	+	1	0	TBCE	233665762	0.992000	0.36948	0.960000	0.40013	0.017000	0.09413	3.092000	0.50207	0.984000	0.38629	-0.438000	0.05819	ATA		0.363	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		3	154	0	0	0	0.115264	0	3	154				
LINC00886	730091	broad.mit.edu	37	3	156528195	156528195	+	lincRNA	SNP	T	T	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr3:156528195T>A	ENST00000472943.1	-	0	148					NR_038387.1				long intergenic non-protein coding RNA 886																		GACCCCAAGTTCAATTTTTAC	0.433																																						ENST00000472943.1																			0																																																			730091							g.chr3:156528195T>A			3q25.31	2013-05-17			ENSG00000240875	ENSG00000240875		"""Long non-coding RNAs"""	48572	non-coding RNA	RNA, long non-coding							Standard	NR_038387		Approved				OTTHUMG00000158647		3.37:g.156528195T>A								NR_038387.1						0	148	-									RNA	SNP	ENST00000472943.1	37																																																																																						0.433	LINC00886-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000351622.1			48	86	0	0	0	0.139131	0	48	86				
ADAMTSL2	9719	broad.mit.edu	37	9	136409649	136409649	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:136409649G>C	ENST00000354484.4	+	8	1297	c.740G>C	c.(739-741)aGg>aCg	p.R247T	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R247T|ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.R356T	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	247					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		ATTGTAGAGAGGAAGAAGTCC	0.567																																						ENST00000393061.3																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14						c.(1066-1068)aGg>aCg		ADAMTS-like 2							154.0	139.0	144.0					9																	136409649		2203	4300	6503	SO:0001583	missense	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136409649G>C	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.740G>C	9.37:g.136409649G>C	ENSP00000346478:p.Arg247Thr					ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.R247T|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R247T	p.R356T			Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	8	1499	+			247					B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	c.1067G>C	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137693	0.77775	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.51325	0.71;0.71;0.71	5.1	5.1	0.69264	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	T	0.59702	0.2213	L	0.55017	1.72	0.45172	D	0.998186	D	0.89917	1.0	D	0.77557	0.99	T	0.53975	-0.8362	10	0.20519	T	0.43	.	11.941	0.52901	0.0799:0.0:0.9201:0.0	.	247	Q86TH1	ATL2_HUMAN	T	247;356;247	ENSP00000346478:R247T;ENSP00000376781:R356T;ENSP00000376780:R247T	ENSP00000346478:R247T	R	+	2	0	ADAMTSL2	135399470	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.910000	0.87451	2.348000	0.79779	0.561000	0.74099	AGG		0.567	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		32	82	0	0	0	0.050027	0	32	82				
PTCH2	8643	broad.mit.edu	37	1	45297924	45297924	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:45297924C>T	ENST00000372192.3	-	3	485	c.355G>A	c.(355-357)Gca>Aca	p.A119T	PTCH2_ENST00000447098.2_Missense_Mutation_p.A119T	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	119					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCCTGGCGTGCGGTCTGTATC	0.587									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(355-357)Gca>Aca		patched 2							256.0	223.0	234.0					1																	45297924		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45297924C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.355G>A	1.37:g.45297924C>T	ENSP00000361266:p.Ala119Thr					PTCH2_ENST00000372192.3_Missense_Mutation_p.A119T	p.A119T	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			3	366	-	Acute lymphoblastic leukemia(166;0.155)		119					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.355G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682229	0.29872	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92348	-3.02;-3.02	4.67	1.71	0.24356	.	0.141093	0.32785	N	0.005643	D	0.87038	0.6078	L	0.46157	1.445	0.25495	N	0.987606	B	0.21520	0.057	B	0.23018	0.043	T	0.77161	-0.2689	10	0.48119	T	0.1	-2.0844	8.1039	0.30874	0.235:0.2467:0.5183:0.0	.	119	Q9Y6C5	PTC2_HUMAN	T	119	ENSP00000389703:A119T;ENSP00000361266:A119T	ENSP00000361266:A119T	A	-	1	0	PTCH2	45070511	0.832000	0.29368	0.277000	0.24703	0.447000	0.32167	1.199000	0.32235	0.186000	0.20125	-0.268000	0.10319	GCA		0.587	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		6	358	0	0	0	0.029380	0	6	358				
ZNF485	220992	broad.mit.edu	37	10	44112775	44112775	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr10:44112775T>G	ENST00000361807.3	+	5	1478	c.1284T>G	c.(1282-1284)caT>caG	p.H428Q	ZNF485_ENST00000374435.3_Missense_Mutation_p.H428Q|ZNF485_ENST00000374437.2_Missense_Mutation_p.H337Q	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAGCAACATAAGAAAATTC	0.378																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(1282-1284)caT>caG		zinc finger protein 485							37.0	42.0	41.0					10																	44112775		2202	4300	6502	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112775T>G	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1284T>G	10.37:g.44112775T>G	ENSP00000354694:p.His428Gln					ZNF485_ENST00000374437.2_Missense_Mutation_p.H337Q|ZNF485_ENST00000374435.3_Missense_Mutation_p.H428Q	p.H428Q	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	1478	+			428					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.1284T>G	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	T	7.404	0.633273	0.14322	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.60797	0.16;0.16;0.16	2.3	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77452	0.4132	H	0.96111	3.77	0.23913	N	0.996483	D	0.67145	0.996	P	0.60609	0.877	T	0.65183	-0.6230	9	0.87932	D	0	.	5.6742	0.17739	0.0:0.1496:0.0:0.8504	.	428	Q8NCK3	ZN485_HUMAN	Q	428;337;428	ENSP00000354694:H428Q;ENSP00000363560:H337Q;ENSP00000363558:H428Q	ENSP00000354694:H428Q	H	+	3	2	ZNF485	43432781	0.003000	0.15002	0.350000	0.25708	0.402000	0.30811	-0.112000	0.10791	0.312000	0.23038	0.260000	0.18958	CAT		0.378	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		13	37	0	0	0	0.093190	0	13	37				
CNTN5	53942	broad.mit.edu	37	11	99932125	99932125	+	Splice_Site	SNP	A	A	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr11:99932125A>T	ENST00000524871.1	+	10	1452	c.1162A>T	c.(1162-1164)Acc>Tcc	p.T388S	CNTN5_ENST00000528682.1_Splice_Site_p.T388S|CNTN5_ENST00000279463.3_Splice_Site_p.T388S|CNTN5_ENST00000418526.2_Splice_Site_p.T314S|CNTN5_ENST00000527185.1_Splice_Site_p.T388S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	388					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAAGTATACAGTAAGTGTTT	0.358																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e10+1		contactin 5							46.0	45.0	45.0					11																	99932125		1848	4090	5938	SO:0001630	splice_region_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99932125A>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1162+1A>T	11.37:g.99932125A>T						CNTN5_ENST00000279463.3_Splice_Site_p.T388_splice|CNTN5_ENST00000418526.2_Splice_Site_p.T314_splice|CNTN5_ENST00000527185.1_Splice_Site_p.T388_splice|CNTN5_ENST00000528682.1_Splice_Site_p.T388_splice	p.T388_splice	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	10	1452	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	388					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Splice_Site	SNP	ENST00000524871.1	37	c.1162_splice	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.711953	0.48517	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	5.43	5.43	0.79202	Immunoglobulin-like fold (1);	0.047237	0.85682	D	0.000000	T	0.64702	0.2622	N	0.04018	-0.295	0.58432	D	0.999996	B;B;B	0.17667	0.018;0.023;0.018	B;B;B	0.17722	0.016;0.01;0.019	T	0.64045	-0.6499	10	0.72032	D	0.01	.	14.9442	0.71016	1.0:0.0:0.0:0.0	.	388;314;388	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	S	388;388;388;314;388	ENSP00000433575:T388S;ENSP00000436185:T388S;ENSP00000435637:T388S;ENSP00000393229:T314S;ENSP00000279463:T388S	ENSP00000279463:T388S	T	+	1	0	CNTN5	99437335	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.284000	0.72652	2.184000	0.69523	0.477000	0.44152	ACC		0.358	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	Missense_Mutation	14	23	0	0	0	0.105934	0	14	23				
OR10T2	128360	broad.mit.edu	37	1	158369112	158369112	+	Missense_Mutation	SNP	C	C	A	rs187897996	byFrequency	TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:158369112C>A	ENST00000334438.1	-	1	144	c.145G>T	c.(145-147)Gtt>Ttt	p.V49F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAGCGAATAACGGCCATGATG	0.488																																						ENST00000334438.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(145-147)Gtt>Ttt		olfactory receptor, family 10, subfamily T, member 2							59.0	61.0	60.0					1																	158369112		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158369112C>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.145G>T	1.37:g.158369112C>A	ENSP00000334115:p.Val49Phe						p.V49F	NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN			1	144	-	all_hematologic(112;0.0378)		49					Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.145G>T	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	C	3.680	-0.065698	0.07273	.	.	ENSG00000186306	ENST00000334438	T	0.03094	4.05	4.73	1.84	0.25277	GPCR, rhodopsin-like superfamily (1);	0.224693	0.22213	U	0.063079	T	0.02848	0.0085	M	0.83953	2.67	0.09310	N	1	P	0.42010	0.768	P	0.44647	0.456	T	0.32693	-0.9897	10	0.87932	D	0	.	3.3734	0.07229	0.1384:0.5691:0.1346:0.1579	.	49	Q8NGX3	O10T2_HUMAN	F	49	ENSP00000334115:V49F	ENSP00000334115:V49F	V	-	1	0	OR10T2	156635736	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.873000	0.01637	0.221000	0.20879	-0.841000	0.03054	GTT		0.488	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		16	46	1	0	9.16793e-09	0.033300	1.03813e-08	16	46				
NUMA1	4926	broad.mit.edu	37	11	71724426	71724426	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr11:71724426C>T	ENST00000393695.3	-	15	4454	c.4123G>A	c.(4123-4125)Gcc>Acc	p.A1375T	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A1375T|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCGGCAGCGGCCTGCTCGGCC	0.697			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(4123-4125)Gcc>Acc		nuclear mitotic apparatus protein 1							15.0	15.0	15.0					11																	71724426		2175	4248	6423	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724426C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4123G>A	11.37:g.71724426C>T	ENSP00000377298:p.Ala1375Thr					NUMA1_ENST00000358965.6_Missense_Mutation_p.A1375T|NUMA1_ENST00000351960.6_Intron	p.A1375T	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	4454	-			1375						Missense_Mutation	SNP	ENST00000393695.3	37	c.4123G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307507	0.60305	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.13089	2.63;2.62	5.14	4.2	0.49525	.	0.248587	0.28560	N	0.014908	T	0.08758	0.0217	N	0.14661	0.345	0.31348	N	0.682913	P;P;P;P	0.42692	0.493;0.787;0.557;0.493	B;B;B;B	0.39258	0.124;0.295;0.178;0.124	T	0.05818	-1.0862	10	0.33141	T	0.24	.	13.9027	0.63815	0.0:0.9242:0.0:0.0758	.	1381;859;1375;1375	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	T	1375;1375;938;344	ENSP00000351851:A1375T;ENSP00000377298:A1375T	ENSP00000351851:A1375T	A	-	1	0	NUMA1	71402074	0.009000	0.17119	0.993000	0.49108	0.619000	0.37552	0.136000	0.15974	2.665000	0.90641	0.655000	0.94253	GCC		0.697	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			8	11	0	0	0	0.047766	0	8	11				
RUSC1	23623	broad.mit.edu	37	1	155291790	155291790	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:155291790G>A	ENST00000368352.5	+	2	377	c.226G>A	c.(226-228)Gag>Aag	p.E76K	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.E76K|RUSC1_ENST00000292254.4_5'Flank|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	76					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGCTGCCAGGAGCACGGTCC	0.672																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(226-228)Gag>Aag		RUN and SH3 domain containing 1							21.0	23.0	23.0					1																	155291790		1951	4134	6085	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155291790G>A	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.226G>A	1.37:g.155291790G>A	ENSP00000357336:p.Glu76Lys					RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.E76K|RUSC1-AS1_ENST00000443642.1_RNA	p.E76K	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	377	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		76					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.226G>A	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253880	0.39896	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.34472	1.41;1.36	4.49	3.58	0.41010	.	0.255317	0.27764	N	0.017953	T	0.08626	0.0214	N	0.19112	0.55	0.80722	D	1	P	0.43750	0.816	B	0.34093	0.175	T	0.06661	-1.0814	10	0.66056	D	0.02	-14.6931	5.9528	0.19257	0.1037:0.1951:0.7012:0.0	.	76	Q9BVN2	RUSC1_HUMAN	K	76	ENSP00000357338:E76K;ENSP00000357336:E76K	ENSP00000357336:E76K	E	+	1	0	RUSC1	153558414	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	1.237000	0.32695	1.109000	0.41680	0.561000	0.74099	GAG		0.672	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			29	13	0	0	0	0.144211	0	29	13				
TBXA2R	6915	broad.mit.edu	37	19	3600521	3600521	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:3600521C>T	ENST00000375190.4	-	2	505	c.112G>A	c.(112-114)Ggc>Agc	p.G38S	TBXA2R_ENST00000589966.1_Missense_Mutation_p.G38S|TBXA2R_ENST00000411851.3_Missense_Mutation_p.G38S|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	38					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GAGGCCAGGCCCACCACGCAG	0.697																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(112-114)Ggc>Agc		thromboxane A2 receptor	Ridogrel(DB01207)						22.0	31.0	28.0					19																	3600521		2121	4206	6327	SO:0001583	missense	6915				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600521C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.112G>A	19.37:g.3600521C>T	ENSP00000364336:p.Gly38Ser					TBXA2R_ENST00000411851.3_Missense_Mutation_p.G38S|TBXA2R_ENST00000589966.1_Missense_Mutation_p.G38S	p.G38S	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	505	-		Hepatocellular(1079;0.137)	38					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.112G>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482555	0.96307	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.48836	0.8;0.8	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63440	-0.6637	10	0.87932	D	0	-37.6265	16.2483	0.82460	0.0:1.0:0.0:0.0	.	38;38	P21731;E2QRJ2	TA2R_HUMAN;.	S	38	ENSP00000393333:G38S;ENSP00000364336:G38S	ENSP00000364336:G38S	G	-	1	0	TBXA2R	3551521	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.605000	0.82844	2.233000	0.73108	0.305000	0.20034	GGC		0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			12	22	0	0	0	0.105934	0	12	22				
TGFBR3	7049	broad.mit.edu	37	1	92193363	92193363	+	Splice_Site	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:92193363A>G	ENST00000525962.1	-	6	799	c.738T>C	c.(736-738)agT>agC	p.S246S	TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Splice_Site_p.S246S|TGFBR3_ENST00000212355.4_Splice_Site_p.S246S			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	246					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCTGGAAAGCACTGTGAATGG	0.408																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.e7-1		transforming growth factor, beta receptor III							67.0	64.0	65.0					1																	92193363		2203	4300	6503	SO:0001630	splice_region_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92193363A>G	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.738-1T>C	1.37:g.92193363A>G						TGFBR3_ENST00000525962.1_Splice_Site_p.S246_splice|TGFBR3_ENST00000370399.2_Splice_Site_p.S246_splice|TGFBR3_ENST00000468996.2_5'UTR	p.S246_splice	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	7	1203	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	246					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Splice_Site	SNP	ENST00000525962.1	37	c.737_splice	CCDS30770.1																																																																																				0.408	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	Silent	8	48	0	0	0	0.047766	0	8	48				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	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		3	69	0	0	0	0.115264	0	3	69				
MMP24	10893	broad.mit.edu	37	20	33867388	33867388	+	IGR	SNP	G	G	A	rs546977597		TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr20:33867388G>A	ENST00000246186.6	+	0	4412				MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.R218W|MMP24-AS1_ENST00000435366.1_RNA|EIF6_ENST00000462894.1_5'Flank|EDEM2_ENST00000540582.1_5'Flank|EIF6_ENST00000374436.3_Missense_Mutation_p.R237W|EIF6_ENST00000374450.3_Missense_Mutation_p.R237W|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)						cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	AGGGAATCCCGCATGCTGGTG	0.527																																						ENST00000374450.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9						c.(709-711)Cgg>Tgg		eukaryotic translation initiation factor 6							228.0	208.0	215.0					20																	33867388		2203	4300	6503	SO:0001628	intergenic_variant	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33867388G>A	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330		20.37:g.33867388G>A						EIF6_ENST00000374436.3_Missense_Mutation_p.R237W|EIF6_ENST00000374443.3_Missense_Mutation_p.R218W|RP4-614O4.11_ENST00000444717.1_RNA	p.R237W	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		6	973	-			237					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.709C>T	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223884	0.79576	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	5.47	4.46	0.54185	.	0.055206	0.64402	D	0.000002	T	0.81442	0.4823	M	0.91872	3.25	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.976	D	0.84460	0.0593	9	0.87932	D	0	-2.3698	11.6947	0.51536	0.0:0.0:0.6925:0.3075	.	218;237	B7ZBG9;P56537	.;IF6_HUMAN	W	237;218;237	.	ENSP00000363559:R237W	R	-	1	2	EIF6	33330802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.712000	0.61888	2.758000	0.94735	0.555000	0.69702	CGG		0.527	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		14	283	0	0	0	0.146539	0	14	283				
SCYL3	57147	broad.mit.edu	37	1	169857876	169857876	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:169857876A>G	ENST00000367770.1	-	1	153	c.106T>C	c.(106-108)Ttt>Ctt	p.F36L	SCYL3_ENST00000367771.6_Missense_Mutation_p.F36L|SCYL3_ENST00000367772.4_Missense_Mutation_p.F36L|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	36	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGAAGCAAATTTGCCATCT	0.383																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(106-108)Ttt>Ctt		SCY1-like 3 (S. cerevisiae)							177.0	165.0	169.0					1																	169857876		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169857876A>G	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.106T>C	1.37:g.169857876A>G	ENSP00000356744:p.Phe36Leu					SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.F36L|SCYL3_ENST00000367771.5_Missense_Mutation_p.F36L	p.F36L	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			2	303	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		36			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.106T>C	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.313469	0.23908	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.28	-5.23	0.02798	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.575482	0.19665	N	0.108895	T	0.16085	0.0387	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.50268	-0.8848	9	.	.	.	1.5301	9.2981	0.37829	0.1669:0.2711:0.562:0.0	.	36;36	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	L	36	ENSP00000356746:F36L;ENSP00000356745:F36L;ENSP00000356744:F36L;ENSP00000407993:F36L	.	F	-	1	0	SCYL3	168124500	0.336000	0.24757	0.001000	0.08648	0.980000	0.70556	1.872000	0.39549	-0.812000	0.04363	0.533000	0.62120	TTT		0.383	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		28	105	0	0	0	0.108266	0	28	105				
MRPS7	51081	broad.mit.edu	37	17	73258479	73258479	+	Intron	SNP	C	C	T	rs6501772	byFrequency	TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr17:73258479C>T	ENST00000245539.6	+	2	310				GGA3_ENST00000538886.1_5'Flank|MRPS7_ENST00000579002.1_Silent_p.S24S|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000579743.1_5'Flank|MRPS7_ENST00000579761.1_Intron|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000537686.1_5'Flank|GGA3_ENST00000578348.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7						translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CGCGCCGCTCCCCCTCGTCGG	0.597													T|||	4451	0.888778	0.8949	0.8905	5008	,	,		19073	0.9286		0.8012	False		,,,				2504	0.9284					ENST00000579002.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(70-72)tcC>tcT		mitochondrial ribosomal protein S7																																				SO:0001627	intron_variant	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73258479C>T	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.84-99C>T	17.37:g.73258479C>T						MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron	p.S24S			Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		1	487	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		0					B2R9N5|Q53GD6	Silent	SNP	ENST00000245539.6	37	c.72C>T	CCDS11718.1																																																																																				0.597	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		3	73	0	0	0	0.115264	0	3	73				
SBF1	6305	broad.mit.edu	37	22	50904460	50904460	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr22:50904460A>G	ENST00000390679.3	-	9	1125	c.941T>C	c.(940-942)aTt>aCt	p.I314T	SBF1_ENST00000348911.6_Missense_Mutation_p.I315T|SBF1_ENST00000380817.3_Missense_Mutation_p.I314T			O95248	MTMR5_HUMAN	SET binding factor 1	314					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACACTCAGGAATGGTGACCGT	0.622																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(940-942)aTt>aCt		SET binding factor 1							128.0	131.0	130.0					22																	50904460		2178	4277	6455	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50904460A>G	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.941T>C	22.37:g.50904460A>G	ENSP00000375097:p.Ile314Thr					SBF1_ENST00000390679.3_Missense_Mutation_p.I314T|SBF1_ENST00000348911.6_Missense_Mutation_p.I315T	p.I314T	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	9	1124	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	314					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.941T>C		.	.	.	.	.	.	.	.	.	.	A	11.27	1.589651	0.28357	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.87179	-2.22;-2.22;-2.22	4.27	4.27	0.50696	.	0.380553	0.26190	N	0.025816	D	0.84410	0.5466	L	0.55213	1.73	0.50313	D	0.999863	B;B	0.22414	0.069;0.05	B;B	0.23852	0.034;0.049	D	0.83522	0.0086	10	0.72032	D	0.01	.	13.2217	0.59892	1.0:0.0:0.0:0.0	.	315;314	G5E933;O95248-4	.;.	T	314;315;325;324;314	ENSP00000370196:I314T;ENSP00000252027:I315T;ENSP00000375097:I314T	ENSP00000336522:I324T	I	-	2	0	SBF1	49251326	0.994000	0.37717	0.761000	0.31378	0.021000	0.10359	5.528000	0.67129	1.808000	0.52836	0.374000	0.22700	ATT		0.622	SBF1-201	KNOWN	basic	protein_coding	protein_coding				34	97	0	0	0	0.064281	0	34	97				
ADAMTS7	11173	broad.mit.edu	37	15	79089102	79089102	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr15:79089102C>G	ENST00000388820.4	-	4	859	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	217					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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						tcccaacgctcccgtcgAGAC	0.657																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(649-651)Gag>Cag		ADAM metallopeptidase with thrombospondin type 1 motif, 7							28.0	26.0	27.0					15																	79089102		2194	4287	6481	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79089102C>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.649G>C	15.37:g.79089102C>G	ENSP00000373472:p.Glu217Gln					ADAMTS7_ENST00000566303.1_5'UTR	p.E217Q	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			4	859	-			217					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.649G>C	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475475	0.84640	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.60424	0.19	5.49	5.49	0.81192	.	0.205398	0.39544	N	0.001328	T	0.55768	0.1941	L	0.56280	1.765	0.44042	D	0.996779	P;B;B	0.36587	0.559;0.047;0.139	B;B;B	0.36244	0.22;0.032;0.025	T	0.59337	-0.7473	10	0.52906	T	0.07	.	16.8508	0.85993	0.0:1.0:0.0:0.0	.	217;217;217	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	Q	217	ENSP00000373472:E217Q	ENSP00000373472:E217Q	E	-	1	0	ADAMTS7	76876157	0.998000	0.40836	0.547000	0.28179	0.543000	0.35085	3.092000	0.50207	2.582000	0.87167	0.462000	0.41574	GAG		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		8	14	0	0	0	0.105934	0	8	14				
ADCY4	196883	broad.mit.edu	37	14	24793333	24793333	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr14:24793333C>T	ENST00000310677.4	-	17	2094	c.1981G>A	c.(1981-1983)Gga>Aga	p.G661R	ADCY4_ENST00000418030.2_Missense_Mutation_p.G661R|ADCY4_ENST00000554068.2_Missense_Mutation_p.G661R|ADCY4_ENST00000396747.3_Missense_Mutation_p.G354R	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	661					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATTCTCAGTCCTGGTCGTGTG	0.612																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1981-1983)Gga>Aga		adenylate cyclase 4							71.0	65.0	67.0					14																	24793333		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24793333C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1981G>A	14.37:g.24793333C>T	ENSP00000312126:p.Gly661Arg					ADCY4_ENST00000554068.2_Missense_Mutation_p.G661R|ADCY4_ENST00000396747.3_Missense_Mutation_p.G354R|ADCY4_ENST00000418030.2_Missense_Mutation_p.G661R	p.G661R	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	17	2094	-			661					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1981G>A	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209424	0.58343	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.78246	-0.94;-0.94;-0.94;-1.16	4.93	4.93	0.64822	.	0.000000	0.45606	D	0.000355	T	0.70762	0.3261	L	0.41236	1.265	0.36235	D	0.852889	P	0.39696	0.683	B	0.43194	0.411	T	0.72171	-0.4371	10	0.23302	T	0.38	.	10.6809	0.45813	0.1906:0.8094:0.0:0.0	.	661	Q8NFM4	ADCY4_HUMAN	R	661;661;661;354	ENSP00000312126:G661R;ENSP00000452250:G661R;ENSP00000393177:G661R;ENSP00000379971:G354R	ENSP00000312126:G661R	G	-	1	0	ADCY4	23863173	0.017000	0.18338	0.936000	0.37596	0.979000	0.70002	0.522000	0.22909	2.569000	0.86673	0.563000	0.77884	GGA		0.612	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			21	14	0	0	0	0.062417	0	21	14				
CCDC81	60494	broad.mit.edu	37	11	86125851	86125851	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr11:86125851A>T	ENST00000445632.2	+	12	1684	c.1412A>T	c.(1411-1413)aAa>aTa	p.K471I	CCDC81_ENST00000354755.1_Missense_Mutation_p.K381I|CCDC81_ENST00000278487.3_Missense_Mutation_p.K206I|CCDC81_ENST00000528728.1_Missense_Mutation_p.K206I	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	471										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CAAAGAGCGAAATTTTTAAAA	0.353																																						ENST00000278487.3																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(616-618)aAa>aTa		coiled-coil domain containing 81							58.0	58.0	58.0					11																	86125851		2202	4299	6501	SO:0001583	missense	60494							g.chr11:86125851A>T	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1412A>T	11.37:g.86125851A>T	ENSP00000415528:p.Lys471Ile					CCDC81_ENST00000354755.1_Missense_Mutation_p.K381I|CCDC81_ENST00000528728.1_Missense_Mutation_p.K206I|CCDC81_ENST00000445632.2_Missense_Mutation_p.K471I	p.K206I			Q6ZN84	CCD81_HUMAN			11	1696	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	471					A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	c.617A>T	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.102589	0.56183	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.86	4.73	0.59995	.	0.455883	0.24018	N	0.042303	T	0.52597	0.1744	L	0.59436	1.845	0.28549	N	0.911735	D;D;P	0.57257	0.979;0.971;0.911	P;P;P	0.58454	0.839;0.809;0.702	T	0.50415	-0.8831	9	.	.	.	-5.5339	9.5929	0.39557	0.9192:0.0:0.0808:0.0	.	206;471;381	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	I	381;206;471;206	ENSP00000346800:K381I;ENSP00000278487:K206I;ENSP00000415528:K471I;ENSP00000437165:K206I	.	K	+	2	0	CCDC81	85803499	0.991000	0.36638	0.972000	0.41901	0.118000	0.20060	1.367000	0.34204	1.037000	0.40024	0.528000	0.53228	AAA		0.353	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		22	31	0	0	0	0.069288	0	22	31				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	79	0	0	0	0.115264	0	3	79				
CLC	1178	broad.mit.edu	37	19	40225079	40225079	+	Silent	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr19:40225079G>A	ENST00000221804.4	-	3	222	c.147C>T	c.(145-147)gaC>gaT	p.D49D		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	49	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		GGAAGACAATGTCTGATTCCT	0.512																																						ENST00000221804.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12						c.(145-147)gaC>gaT		Charcot-Leyden crystal galectin							203.0	175.0	185.0					19																	40225079		2203	4300	6503	SO:0001819	synonymous_variant	1178				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40225079G>A	L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.147C>T	19.37:g.40225079G>A							p.D49D	NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)	3	222	-	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	49			Galectin.		C5HZ13|C5HZ14|Q0VDE3	Silent	SNP	ENST00000221804.4	37	c.147C>T	CCDS33025.1																																																																																				0.512	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828		64	98	0	0	0	0.139131	0	64	98				
AKAP9	10142	broad.mit.edu	37	7	91631292	91631292	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:91631292T>A	ENST00000359028.2	+	9	2322	c.2097T>A	c.(2095-2097)aaT>aaA	p.N699K	AKAP9_ENST00000356239.3_Missense_Mutation_p.N687K|AKAP9_ENST00000358100.2_Missense_Mutation_p.N699K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	699	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAGGACAATTTGATAACTA	0.294			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(2095-2097)aaT>aaA		A kinase (PRKA) anchor protein 9							32.0	36.0	35.0					7																	91631292		2132	4230	6362	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631292T>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2097T>A	7.37:g.91631292T>A	ENSP00000351922:p.Asn699Lys					AKAP9_ENST00000358100.2_Missense_Mutation_p.N699K|AKAP9_ENST00000356239.3_Missense_Mutation_p.N687K	p.N699K			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	2322	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		699			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.2097T>A		.	.	.	.	.	.	.	.	.	.	T	6.786	0.513993	0.12944	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.44083	0.93;0.93;0.93	5.73	2.14	0.27477	.	0.479179	0.17713	N	0.164524	T	0.36468	0.0968	N	0.24115	0.695	0.25344	N	0.988926	B;B;P;P	0.41232	0.112;0.178;0.51;0.743	B;B;B;P	0.49999	0.024;0.053;0.154;0.628	T	0.15378	-1.0439	10	0.66056	D	0.02	.	6.8967	0.24260	0.0:0.4645:0.0:0.5355	.	699;687;687;699	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	K	687;699;699;699;699	ENSP00000348573:N687K;ENSP00000351922:N699K;ENSP00000350813:N699K	ENSP00000348573:N687K	N	+	3	2	AKAP9	91469228	0.002000	0.14202	0.996000	0.52242	0.985000	0.73830	-0.150000	0.10189	0.542000	0.28846	-0.281000	0.10026	AAT		0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		30	72	0	0	0	0.050027	0	30	72				
MURC	347273	broad.mit.edu	37	9	103348134	103348134	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:103348134G>C	ENST00000307584.5	+	2	561	c.496G>C	c.(496-498)Gat>Cat	p.D166H		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	166					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.D166N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TGATATCTTTGATCCCCCAGT	0.423																																						ENST00000307584.5																			1	Substitution - Missense(1)	p.D166N(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16						c.(496-498)Gat>Cat		muscle-related coiled-coil protein							68.0	66.0	67.0					9																	103348134		2203	4300	6503	SO:0001583	missense	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103348134G>C	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.496G>C	9.37:g.103348134G>C	ENSP00000418668:p.Asp166His						p.D166H	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN			2	561	+		Acute lymphoblastic leukemia(62;0.0461)	166					B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	c.496G>C	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973911	0.34848	.	.	ENSG00000170681	ENST00000307584	T	0.59502	0.26	5.16	4.13	0.48395	.	0.555553	0.20886	N	0.083902	T	0.50582	0.1624	L	0.34521	1.04	0.09310	N	0.999999	P	0.51240	0.943	P	0.51170	0.661	T	0.34079	-0.9843	10	0.14252	T	0.57	-13.3474	9.9907	0.41870	0.0:0.0:0.669:0.331	.	166	Q5BKX8	MURC_HUMAN	H	166	ENSP00000418668:D166H	ENSP00000418668:D166H	D	+	1	0	MURC	102387955	0.996000	0.38824	0.849000	0.33467	0.074000	0.17049	2.068000	0.41471	2.566000	0.86566	0.561000	0.74099	GAT		0.423	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		21	45	0	0	0	0.049695	0	21	45				
C5orf34	375444	broad.mit.edu	37	5	43506009	43506009	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr5:43506009G>A	ENST00000306862.2	-	4	1148	c.773C>T	c.(772-774)gCa>gTa	p.A258V	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	258										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AAAATGAAGTGCTAAAGACAA	0.383																																						ENST00000306862.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(772-774)gCa>gTa		chromosome 5 open reading frame 34							104.0	106.0	105.0					5																	43506009		2203	4300	6503	SO:0001583	missense	375444							g.chr5:43506009G>A	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.773C>T	5.37:g.43506009G>A	ENSP00000303490:p.Ala258Val					RP11-159F24.3_ENST00000505645.1_RNA	p.A258V	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN			4	1148	-	Lung NSC(6;2.07e-05)		258						Missense_Mutation	SNP	ENST00000306862.2	37	c.773C>T	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050315	0.75846	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	T	0.56103	0.48	5.03	4.15	0.48705	.	0.254237	0.38897	N	0.001540	T	0.69602	0.3129	M	0.74881	2.28	0.41223	D	0.986526	D	0.71674	0.998	D	0.64776	0.929	T	0.74411	-0.3674	10	0.72032	D	0.01	-9.9094	13.9837	0.64321	0.0:0.151:0.849:0.0	.	258	Q96MH7	CE034_HUMAN	V	258;144	ENSP00000303490:A258V	ENSP00000303490:A258V	A	-	2	0	C5orf34	43541766	1.000000	0.71417	0.797000	0.32132	0.789000	0.44602	4.215000	0.58534	1.103000	0.41568	0.591000	0.81541	GCA		0.383	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		6	107	0	0	0	0.021553	0	6	107				
UGT2B28	54490	broad.mit.edu	37	4	70148312	70148312	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr4:70148312C>T	ENST00000335568.5	+	2	804	c.802C>T	c.(802-804)Cat>Tat	p.H268Y	UGT2B28_ENST00000511240.1_Missense_Mutation_p.H268Y	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	268					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAATTTCCTCATCCATTCTT	0.403																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(802-804)Cat>Tat		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						125.0	151.0	143.0					4																	70148312		2037	4242	6279	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70148312C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.802C>T	4.37:g.70148312C>T	ENSP00000334276:p.His268Tyr					UGT2B28_ENST00000511240.1_Missense_Mutation_p.H268Y	p.H268Y	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			2	804	+			268					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.802C>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	5.071	0.198782	0.09652	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.59224	0.28;0.28	2.18	2.18	0.27775	.	0.146541	0.46758	U	0.000271	T	0.54095	0.1837	M	0.72118	2.19	0.25780	N	0.984732	B;B	0.15719	0.002;0.014	B;B	0.21151	0.012;0.033	T	0.55698	-0.8100	10	0.59425	D	0.04	.	10.0404	0.42155	0.0:1.0:0.0:0.0	.	268;268	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	Y	268	ENSP00000334276:H268Y;ENSP00000427399:H268Y	ENSP00000334276:H268Y	H	+	1	0	UGT2B28	70182901	0.943000	0.32029	0.070000	0.20053	0.003000	0.03518	2.992000	0.49417	1.229000	0.43630	0.184000	0.17185	CAT		0.403	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		95	162	0	0	0	0.139131	0	95	162				
RPAP2	79871	broad.mit.edu	37	1	92789348	92789348	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:92789348C>T	ENST00000610020.1	+	8	980	c.871C>T	c.(871-873)Cct>Tct	p.P291S	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	291					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ATGTGAACTTCCTTTACAGAA	0.368																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(871-873)Cct>Tct		RNA polymerase II associated protein 2							95.0	99.0	97.0					1																	92789348		2203	4299	6502	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789348C>T	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.871C>T	1.37:g.92789348C>T	ENSP00000476948:p.Pro291Ser					RPAP2_ENST00000484158.1_3'UTR	p.P291S	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	980	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	291					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.871C>T	CCDS740.1	.	.	.	.	.	.	.	.	.	.	C	5.050	0.194974	0.09599	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.55	3.51	0.40186	.	0.362051	0.30752	N	0.008957	T	0.24661	0.0598	L	0.55103	1.725	0.30917	N	0.7284280000000001	B	0.26195	0.144	B	0.23150	0.044	T	0.08638	-1.0712	8	0.35671	T	0.21	-11.7192	5.7827	0.18316	0.1372:0.6232:0.134:0.1056	.	291	Q8IXW5	RPAP2_HUMAN	S	291	.	ENSP00000359368:P291S	P	+	1	0	RPAP2	92561936	0.256000	0.24012	0.995000	0.50966	0.657000	0.38888	0.495000	0.22483	1.529000	0.49120	0.655000	0.94253	CCT		0.368	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		52	98	0	0	0	0.139131	0	52	98				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			132241							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			5	144	0	0	0	0.021553	0	5	144				
TNC	3371	broad.mit.edu	37	9	117803269	117803269	+	Silent	SNP	G	G	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr9:117803269G>A	ENST00000350763.4	-	19	5754	c.5343C>T	c.(5341-5343)gcC>gcT	p.A1781A	TNC_ENST00000535648.1_Silent_p.A1326A|TNC_ENST00000345230.3_Silent_p.A1144A|TNC_ENST00000537320.1_Silent_p.A1144A|TNC_ENST00000542877.1_Silent_p.A1418A|TNC_ENST00000341037.4_Silent_p.A1599A|TNC_ENST00000346706.3_Silent_p.A1235A|TNC_ENST00000340094.3_Silent_p.A1417A|TNC_ENST00000423613.2_Silent_p.A1508A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1781	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> T (in dbSNP:rs2274750).		bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCCTTCATGGCGATGATGC	0.507																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(5341-5343)gcC>gcT		tenascin C							197.0	166.0	177.0					9																	117803269		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117803269G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5343C>T	9.37:g.117803269G>A						TNC_ENST00000345230.3_Silent_p.A1144A|TNC_ENST00000346706.3_Silent_p.A1235A|TNC_ENST00000341037.4_Silent_p.A1599A|TNC_ENST00000542877.1_Silent_p.A1418A|TNC_ENST00000340094.3_Silent_p.A1417A|TNC_ENST00000537320.1_Silent_p.A1144A|TNC_ENST00000535648.1_Silent_p.A1326A|TNC_ENST00000423613.2_Silent_p.A1508A	p.A1781A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			19	5754	-			1781		A -> T (in dbSNP:rs2274750).	Fibronectin type-III 13.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.5343C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357778	0.24598	.	.	ENSG00000041982	ENST00000544972	.	.	.	6.08	3.07	0.35406	.	.	.	.	.	T	0.45034	0.1322	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40478	-0.9561	4	.	.	.	.	2.5633	0.04777	0.221:0.1264:0.5084:0.1441	.	.	.	.	Y	344	.	.	H	-	1	0	TNC	116843090	0.991000	0.36638	0.999000	0.59377	0.879000	0.50718	0.276000	0.18716	1.571000	0.49722	0.655000	0.94253	CAT		0.507	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		43	51	0	0	0	0.104719	0	43	51				
ARHGDIG	398	broad.mit.edu	37	16	332800	332800	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr16:332800G>T	ENST00000219409.3	+	6	739	c.664G>T	c.(664-666)Gac>Tac	p.D222Y	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	222					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CATCTGCCAGGACTGGAAGGA	0.647											OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000219409.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)	3						c.(664-666)Gac>Tac		Rho GDP dissociation inhibitor (GDI) gamma							29.0	27.0	28.0					16																	332800		2199	4297	6496	SO:0001583	missense	398				negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr16:332800G>T	U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"""RhoGDI gamma"""	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.664G>T	16.37:g.332800G>T	ENSP00000219409:p.Asp222Tyr		OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	587		p.D222Y	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN			6	739	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	222					Q4TT69|Q96S29	Missense_Mutation	SNP	ENST00000219409.3	37	c.664G>T	CCDS10404.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368531	0.42003	.	.	ENSG00000242173	ENST00000219409;ENST00000414650	.	.	.	4.11	4.11	0.48088	Immunoglobulin E-set (1);	0.100861	0.40144	U	0.001165	D	0.83764	0.5325	M	0.90650	3.135	0.52099	D	0.99994	D	0.89917	1.0	D	0.80764	0.994	D	0.87326	0.2321	8	.	.	.	-9.2072	13.8384	0.63424	0.0:0.0:1.0:0.0	.	222	Q99819	GDIR3_HUMAN	Y	222;114	.	.	D	+	1	0	ARHGDIG	272801	1.000000	0.71417	0.990000	0.47175	0.142000	0.21351	7.311000	0.78958	1.847000	0.53656	0.563000	0.77884	GAC		0.647	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1			4	11	1	0	0.00024832	0.009096	0.000265564	4	11				
DNAJC10	54431	broad.mit.edu	37	2	183593374	183593374	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr2:183593374T>A	ENST00000264065.7	+	6	905	c.490T>A	c.(490-492)Tta>Ata	p.L164I	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.L164I	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	164	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTGCCATGATTTAGCTCCCAC	0.303																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(490-492)Tta>Ata		DnaJ (Hsp40) homolog, subfamily C, member 10							110.0	107.0	108.0					2																	183593374		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183593374T>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.490T>A	2.37:g.183593374T>A	ENSP00000264065:p.Leu164Ile					DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.L164I	p.L164I	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		6	905	+			164			Thioredoxin 1.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.490T>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681632	0.88542	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	T;T	0.03951	3.75;3.75	5.87	4.73	0.59995	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.64402	D	0.000001	T	0.23410	0.0566	M	0.89095	3.005	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.00936	-1.1508	10	0.72032	D	0.01	.	9.0775	0.36531	0.0:0.1398:0.0:0.8602	.	164;164	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	I	164	ENSP00000264065:L164I;ENSP00000441560:L164I	ENSP00000264065:L164I	L	+	1	2	DNAJC10	183301619	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.486000	0.53215	1.165000	0.42670	0.533000	0.62120	TTA		0.303	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		71	72	0	0	0	0.139131	0	71	72				
BAI2	576	broad.mit.edu	37	1	32207698	32207698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:32207698delC	ENST00000373658.3	-	8	1714	c.1373delG	c.(1372-1374)ggtfs	p.G458fs	BAI2_ENST00000373655.2_Frame_Shift_Del_p.G458fs|BAI2_ENST00000398556.3_Frame_Shift_Del_p.G406fs|BAI2_ENST00000257070.4_Frame_Shift_Del_p.G458fs|BAI2_ENST00000398542.1_Frame_Shift_Del_p.G391fs|BAI2_ENST00000527361.1_Frame_Shift_Del_p.G458fs|BAI2_ENST00000398547.1_Frame_Shift_Del_p.G391fs|BAI2_ENST00000398538.1_Frame_Shift_Del_p.G446fs|BAI2_ENST00000440175.2_Frame_Shift_Del_p.G100fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	458	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTGAGGGCACCCGTGCATGT	0.677																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1372-1374)gtfs		brain-specific angiogenesis inhibitor 2							30.0	35.0	34.0					1																	32207698		2203	4300	6503	SO:0001589	frameshift_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207698delC	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1373delG	1.37:g.32207698delC	ENSP00000362762:p.Gly458fs					BAI2_ENST00000398538.1_Frame_Shift_Del_p.G446fs|BAI2_ENST00000527361.1_Frame_Shift_Del_p.G458fs|BAI2_ENST00000257070.4_Frame_Shift_Del_p.G458fs|BAI2_ENST00000398547.1_Frame_Shift_Del_p.G391fs|BAI2_ENST00000398542.1_Frame_Shift_Del_p.G391fs|BAI2_ENST00000398556.3_Frame_Shift_Del_p.G406fs|BAI2_ENST00000373655.2_Frame_Shift_Del_p.G458fs|BAI2_ENST00000440175.2_Frame_Shift_Del_p.G100fs	p.G458fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	8	1714	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	458			TSP type-1 3.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Frame_Shift_Del	DEL	ENST00000373658.3	37	c.1373delG	CCDS346.2																																																																																				0.677	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		19	44						19	44	---	---	---	---
CCDC181	57821	broad.mit.edu	37	1	169364364	169364364	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr1:169364364delG	ENST00000367806.3	-	6	1603	c.1451delC	c.(1450-1452)gctfs	p.A484fs	CCDC181_ENST00000545005.1_Frame_Shift_Del_p.A483fs|CCDC181_ENST00000367805.3_Frame_Shift_Del_p.A483fs|BLZF1_ENST00000329281.2_Intron	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	484						nucleus (GO:0005634)											AGAACGCTTAGCTTCTAGTCG	0.383																																						ENST00000545005.1																			0											c.(1447-1449)gtfs		coiled-coil domain containing 181							156.0	144.0	148.0					1																	169364364		2203	4300	6503	SO:0001589	frameshift_variant	57821							g.chr1:169364364delG	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1451delC	1.37:g.169364364delG	ENSP00000356780:p.Ala484fs					CCDC181_ENST00000367806.3_Frame_Shift_Del_p.A484fs|CCDC181_ENST00000367805.3_Frame_Shift_Del_p.A483fs|BLZF1_ENST00000329281.2_Intron	p.A483fs							7	1955	-								O60780|Q53FD5|Q5TID9|Q8TC48	Frame_Shift_Del	DEL	ENST00000367806.3	37	c.1448delC																																																																																					0.383	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		38	115						38	115	---	---	---	---
HS6ST1	9394	broad.mit.edu	37	2	129026219	129026220	+	Frame_Shift_Ins	INS	-	-	A	rs374446596		TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr2:129026219_129026220insA	ENST00000259241.6	-	2	765_766	c.752_753insT	c.(751-753)gtgfs	p.V251fs		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	251					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCAGCATGCGCACCTGGCGGTT	0.658																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(751-753)gcgfs		heparan sulfate 6-O-sulfotransferase 1																																				SO:0001589	frameshift_variant	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026219_129026220insA	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.753dupT	2.37:g.129026220_129026220dupA	ENSP00000259241:p.Val251fs						p.A251fs	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	765_766	-	Colorectal(110;0.1)		251					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Frame_Shift_Ins	INS	ENST00000259241.6	37	c.752_753insT	CCDS42748.1																																																																																				0.658	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		31	20						31	20	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136062680	136062683	+	Frame_Shift_Del	DEL	AAAA	AAAA	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr3:136062680_136062683delAAAA	ENST00000383202.2	-	30	3693_3696	c.3437_3440delTTTT	c.(3436-3441)tttttafs	p.FL1146fs	STAG1_ENST00000236698.5_Frame_Shift_Del_p.FL1146fs|STAG1_ENST00000434713.2_Frame_Shift_Del_p.FL886fs|STAG1_ENST00000536929.1_Frame_Shift_Del_p.FL730fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1146					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTACTTGTGTAAAAAGTCTGGTTC	0.382																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3436-3441)tafs		stromal antigen 1																																				SO:0001589	frameshift_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136062680_136062683delAAAA	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3437_3440delTTTT	3.37:g.136062680_136062683delAAAA	ENSP00000372689:p.Phe1146fs					STAG1_ENST00000536929.1_Frame_Shift_Del_p.FL730fs|STAG1_ENST00000236698.5_Frame_Shift_Del_p.FL1146fs|STAG1_ENST00000434713.2_Frame_Shift_Del_p.FL886fs	p.FL1146fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			30	3693_3696	-			1146					O00539|Q6P275	Frame_Shift_Del	DEL	ENST00000383202.2	37	c.3437_3440delTTTT	CCDS3090.1																																																																																				0.382	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		18	49						18	49	---	---	---	---
ELN	2006	broad.mit.edu	37	7	73466124	73466132	+	In_Frame_Del	DEL	GTTCCTGGC	GTTCCTGGC	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr7:73466124_73466132delGTTCCTGGC	ENST00000252034.7	+	16	1243_1251	c.844_852delGTTCCTGGC	c.(844-852)gttcctggcdel	p.VPG285del	ELN_ENST00000429192.1_In_Frame_Del_p.VPG290del|ELN_ENST00000380576.5_In_Frame_Del_p.VPG285del|ELN_ENST00000445912.1_In_Frame_Del_p.VPG285del|ELN_ENST00000380553.4_In_Frame_Del_p.VPG168del|ELN_ENST00000320492.7_In_Frame_Del_p.VPG249del|ELN_ENST00000358929.4_In_Frame_Del_p.VPG285del|ELN_ENST00000458204.1_In_Frame_Del_p.VPG275del|ELN_ENST00000320399.6_In_Frame_Del_p.VPG285del|ELN_ENST00000357036.5_In_Frame_Del_p.VPG290del|ELN_ENST00000380575.4_In_Frame_Del_p.VPG275del|ELN_ENST00000380584.4_In_Frame_Del_p.VPG271del|ELN_ENST00000380562.4_In_Frame_Del_p.VPG285del|ELN_ENST00000414324.1_In_Frame_Del_p.VPG280del	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	285	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AGGGGCTGGTGTTCCTGGCGTGCCTGGGG	0.612			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(844-852)del		elastin	Rofecoxib(DB00533)																																			SO:0001651	inframe_deletion	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73466124_73466132delGTTCCTGGC		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.844_852delGTTCCTGGC	7.37:g.73466124_73466132delGTTCCTGGC	ENSP00000252034:p.Val285_Gly287del		OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1145	ELN_ENST00000380575.4_In_Frame_Del_p.VPG275del|ELN_ENST00000429192.1_In_Frame_Del_p.VPG290del|ELN_ENST00000380576.5_In_Frame_Del_p.VPG285del|ELN_ENST00000414324.1_In_Frame_Del_p.VPG280del|ELN_ENST00000380584.4_In_Frame_Del_p.VPG271del|ELN_ENST00000357036.5_In_Frame_Del_p.VPG290del|ELN_ENST00000320399.6_In_Frame_Del_p.VPG285del|ELN_ENST00000358929.4_In_Frame_Del_p.VPG285del|ELN_ENST00000320492.7_In_Frame_Del_p.VPG249del|ELN_ENST00000380553.4_In_Frame_Del_p.VPG168del|ELN_ENST00000380562.4_In_Frame_Del_p.VPG285del|ELN_ENST00000458204.1_In_Frame_Del_p.VPG275del|ELN_ENST00000445912.1_In_Frame_Del_p.VPG285del	p.VPG285del	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			16	1243_1251	+		Lung NSC(55;0.159)	285			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	In_Frame_Del	DEL	ENST00000252034.7	37	c.844_852delGTTCCTGGC	CCDS5562.2																																																																																				0.612	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		35	52						35	52	---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49722758	49722758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5843-01A-11D-1669-08	TCGA-B4-5843-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97dd656c-4d46-4d9b-979a-bfa8694ed4d3	f601fb78-315b-4f3d-bb09-364b57df0be2	g.chr12:49722758delC	ENST00000257909.3	+	9	1016	c.940delC	c.(940-942)cccfs	p.P314fs	TROAP_ENST00000547923.1_Frame_Shift_Del_p.P22fs|TROAP_ENST00000551245.1_Frame_Shift_Del_p.P314fs	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	314					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGTGGCCCAGCCCTTGCCTGG	0.602																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(940-942)ccfs		trophinin associated protein							69.0	67.0	68.0					12																	49722758		2203	4300	6503	SO:0001589	frameshift_variant	10024				cell adhesion	cytoplasm		g.chr12:49722758delC	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.940delC	12.37:g.49722758delC	ENSP00000257909:p.Pro314fs					TROAP_ENST00000547923.1_Frame_Shift_Del_p.P22fs|TROAP_ENST00000257909.3_Frame_Shift_Del_p.P314fs	p.P314fs			Q12815	TROAP_HUMAN			9	1051	+			314					F8VSF9|Q6PJU7|Q8N5B2	Frame_Shift_Del	DEL	ENST00000257909.3	37	c.940delC	CCDS8784.1																																																																																				0.602	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		38	78						38	78	---	---	---	---
