#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KIF17	57576	broad.mit.edu	37	1	21040007	21040007	+	Silent	SNP	C	C	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:21040007C>G	ENST00000247986.2	-	3	730	c.420G>C	c.(418-420)ctG>ctC	p.L140L	KIF17_ENST00000375044.1_Silent_p.L40L|KIF17_ENST00000400463.3_Silent_p.L140L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	140	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGTAGATCTCCAGGTAGGAGG	0.582																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(418-420)ctG>ctC		kinesin family member 17							71.0	64.0	66.0					1																	21040007		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21040007C>G	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.420G>C	1.37:g.21040007C>G			Somatic				KIF17_ENST00000400463.3_Silent_p.L140L|KIF17_ENST00000375044.1_Silent_p.L40L	p.L140L			WXS	Illumina GAIIx	Phase_I	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	3	730	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	140			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.420G>C	CCDS213.1																																																																																				0.582	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		3	43	3	43	---	---	---	---
NDC1	55706	broad.mit.edu	37	1	54284690	54284690	+	Silent	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:54284690T>C	ENST00000371429.3	-	6	1255	c.657A>G	c.(655-657)gaA>gaG	p.E219E	NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000540001.1_Silent_p.E219E|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_Silent_p.E104E	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	219					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										GGAACAGTGATTCCACACAAC	0.318																																						ENST00000371429.3																			0											c.(655-657)gaA>gaG		NDC1 transmembrane nucleoporin							60.0	60.0	60.0					1																	54284690		2203	4298	6501	SO:0001819	synonymous_variant	55706							g.chr1:54284690T>C	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.657A>G	1.37:g.54284690T>C			Somatic				NDC1_ENST00000234725.8_Silent_p.E104E|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_Silent_p.E219E|NDC1_ENST00000537333.1_5'UTR	p.E219E	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	WXS	Illumina GAIIx	Phase_I					6	1255	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	ENST00000371429.3	37	c.657A>G	CCDS583.1																																																																																				0.318	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		3	34	3	34	---	---	---	---
USP33	23032	broad.mit.edu	37	1	78194272	78194272	+	Silent	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:78194272G>A	ENST00000370793.1	-	11	1282	c.936C>T	c.(934-936)agC>agT	p.S312S	USP33_ENST00000357428.1_Silent_p.S312S|USP33_ENST00000370794.3_Silent_p.S281S|USP33_ENST00000370792.3_Silent_p.S312S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	312	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATCCGACTGGCTCTTGTCTT	0.378																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(934-936)agC>agT		ubiquitin specific peptidase 33							189.0	160.0	170.0					1																	78194272		2203	4300	6503	SO:0001819	synonymous_variant	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78194272G>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.936C>T	1.37:g.78194272G>A			Somatic				USP33_ENST00000370794.3_Silent_p.S281S|USP33_ENST00000357428.1_Silent_p.S312S|USP33_ENST00000370792.3_Silent_p.S312S	p.S312S	NM_015017.4	NP_055832.3	WXS	Illumina GAIIx	Phase_I	Q8TEY7	UBP33_HUMAN			11	1282	-			312					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	c.936C>T	CCDS678.1																																																																																				0.378	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		9	86	9	86	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103427811	103427811	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:103427811C>A	ENST00000370096.3	-	40	3347	c.3035G>T	c.(3034-3036)gGt>gTt	p.G1012V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1024V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1012	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1012V(1)|p.G1024V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTGAGGACCTGGATCACC	0.388																																						ENST00000358392.2																			2	Substitution - Missense(2)	p.G1012V(1)|p.G1024V(1)	lung(2)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3070-3072)gGt>gTt		collagen, type XI, alpha 1							80.0	81.0	81.0					1																	103427811		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103427811C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3035G>T	1.37:g.103427811C>A	ENSP00000359114:p.Gly1012Val		Somatic				COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1012V	p.G1024V	NM_080629.2	NP_542196.2	WXS	Illumina GAIIx	Phase_I	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	40	3388	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1012			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3071G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.766944	0.69878	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99532	-6.1;-6.1;-6.1;-6.1	5.37	5.37	0.77165	.	0.060994	0.64402	D	0.000003	D	0.99834	0.9925	H	0.97340	3.985	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.998	D	0.96978	0.9713	10	0.59425	D	0.04	.	19.1062	0.93296	0.0:1.0:0.0:0.0	.	896;973;1024;1012;232	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	1012;1024;973;232;896	ENSP00000359114:G1012V;ENSP00000351163:G1024V;ENSP00000302551:G973V;ENSP00000426533:G896V	ENSP00000302551:G973V	G	-	2	0	COL11A1	103200399	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.425000	0.80255	2.509000	0.84616	0.557000	0.71058	GGT		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	81	5	81	---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115223006	115223006	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:115223006A>G	ENST00000520113.2	-	6	755	c.740T>C	c.(739-741)gTa>gCa	p.V247A	AMPD1_ENST00000369538.3_Missense_Mutation_p.V243A|AMPD1_ENST00000353928.6_Missense_Mutation_p.V214A			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	247					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GACGTAAACTACACCGTCCTT	0.443																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(727-729)gTa>gCa		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						174.0	163.0	167.0					1																	115223006		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115223006A>G	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.740T>C	1.37:g.115223006A>G	ENSP00000430075:p.Val247Ala		Somatic				AMPD1_ENST00000520113.2_Missense_Mutation_p.V247A|AMPD1_ENST00000353928.6_Missense_Mutation_p.V214A	p.V243A	NM_001172626.1	NP_001166097.1	WXS	Illumina GAIIx	Phase_I	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	775	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	214					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.728T>C	CCDS876.2	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072879	0.55646	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.91407	-2.84;-2.84;-2.84	6.07	6.07	0.98685	.	0.224065	0.44902	D	0.000401	D	0.90390	0.6992	M	0.87180	2.865	0.58432	D	0.999999	B;B	0.30824	0.296;0.229	B;B	0.33521	0.165;0.162	D	0.90803	0.4695	10	0.87932	D	0	-12.7583	16.635	0.85050	1.0:0.0:0.0:0.0	.	243;214	Q5TF02;P23109	.;AMPD1_HUMAN	A	247;243;214	ENSP00000430075:V247A;ENSP00000358551:V243A;ENSP00000316520:V214A	ENSP00000316520:V214A	V	-	2	0	AMPD1	115024529	0.999000	0.42202	0.334000	0.25495	0.420000	0.31355	9.297000	0.96120	2.330000	0.79161	0.477000	0.44152	GTA		0.443	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			30	101	30	101	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185953341	185953341	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:185953341G>A	ENST00000271588.4	+	19	3060	c.2831G>A	c.(2830-2832)aGc>aAc	p.S944N	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S944N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	944	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTGATGGGAGCCTCCATATT	0.388																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(2830-2832)aGc>aAc		hemicentin 1							175.0	171.0	172.0					1																	185953341		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185953341G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2831G>A	1.37:g.185953341G>A	ENSP00000271588:p.Ser944Asn		Somatic				HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S944N	p.S944N	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			19	3060	+			944			Ig-like C2-type 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.2831G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999569	0.93227	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68903	-0.36;-0.36	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.995	T	0.75741	-0.3211	10	0.38643	T	0.18	.	20.0621	0.97678	0.0:0.0:1.0:0.0	.	328;944	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	N	944	ENSP00000271588:S944N;ENSP00000356462:S944N	ENSP00000271588:S944N	S	+	2	0	HMCN1	184219964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.703000	0.91344	2.750000	0.94351	0.655000	0.94253	AGC		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		3	58	3	58	---	---	---	---
AVPR1B	553	broad.mit.edu	37	1	206224447	206224447	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:206224447T>C	ENST00000367126.4	+	1	472	c.7T>C	c.(7-9)Tct>Cct	p.S3P	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	3					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTCATGGATTCTGGGCCTCT	0.607																																						ENST00000367126.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(7-9)Tct>Cct		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						154.0	181.0	172.0					1																	206224447		2198	4296	6494	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224447T>C	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.7T>C	1.37:g.206224447T>C	ENSP00000356094:p.Ser3Pro		Somatic					p.S3P	NM_000707.3	NP_000698.1	WXS	Illumina GAIIx	Phase_I	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	472	+			3					B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.7T>C	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	T	4.309	0.056549	0.08291	.	.	ENSG00000198049	ENST00000367126	T	0.64991	-0.13	5.03	-4.04	0.04010	.	1.082370	0.07156	N	0.849994	T	0.47135	0.1429	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36625	-0.9740	10	0.40728	T	0.16	-2.3557	3.0078	0.06034	0.1418:0.4237:0.1321:0.3024	.	3	P47901	V1BR_HUMAN	P	3	ENSP00000356094:S3P	ENSP00000356094:S3P	S	+	1	0	AVPR1B	204391070	0.002000	0.14202	0.073000	0.20177	0.078000	0.17371	-0.298000	0.08265	-0.457000	0.07033	0.482000	0.46254	TCT		0.607	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		20	445	20	445	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10914947	10914947	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:10914947C>A	ENST00000272238.4	+	9	781	c.672C>A	c.(670-672)ttC>ttA	p.F224L	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.F224L	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	224					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGGGCCTTTTCACTGTGACTC	0.517																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(670-672)ttC>ttA		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							124.0	132.0	130.0					2																	10914947		2203	4300	6503	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10914947C>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.672C>A	2.37:g.10914947C>A	ENSP00000272238:p.Phe224Leu		Somatic				ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.F224L	p.F224L	NM_144583.3	NP_653184.2	WXS	Illumina GAIIx	Phase_I	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	9	781	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		224					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.672C>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129751	0.56721	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.50813	0.73;0.73	5.69	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	M	0.88512	2.96	0.58432	D	0.999999	D;D	0.59767	0.966;0.986	P;D	0.62955	0.852;0.909	T	0.76282	-0.3016	10	0.66056	D	0.02	-10.4791	14.5016	0.67724	0.0:0.8764:0.0:0.1236	.	224;224	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	L	224	ENSP00000272238:F224L;ENSP00000371077:F224L	ENSP00000272238:F224L	F	+	3	2	ATP6V1C2	10832398	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	2.669000	0.46825	2.688000	0.91661	0.561000	0.74099	TTC		0.517	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		4	194	4	194	---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128262415	128262415	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:128262415A>G	ENST00000295321.4	-	3	1323	c.1064T>C	c.(1063-1065)aTg>aCg	p.M355T	IWS1_ENST00000455721.2_Missense_Mutation_p.M362T|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	355	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTTTCTGTCCATATGGCTGTC	0.423																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1063-1065)aTg>aCg		IWS1 homolog (S. cerevisiae)							287.0	269.0	275.0					2																	128262415		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262415A>G	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1064T>C	2.37:g.128262415A>G	ENSP00000295321:p.Met355Thr		Somatic				AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.M362T	p.M355T	NM_017969.2	NP_060439.2	WXS	Illumina GAIIx	Phase_I	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1323	-	Colorectal(110;0.1)		355			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1064T>C	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.303407	0.00240	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.28069	1.64;1.63	5.93	-0.406	0.12389	.	1.076080	0.07076	N	0.836125	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32613	-0.9900	10	0.13853	T	0.58	0.172	5.9306	0.19136	0.418:0.0:0.4365:0.1456	.	355	Q96ST2	IWS1_HUMAN	T	355;308;362	ENSP00000295321:M355T;ENSP00000399245:M362T	ENSP00000295321:M355T	M	-	2	0	IWS1	127978885	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.123000	0.10611	-0.390000	0.07774	-1.341000	0.01249	ATG		0.423	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		24	142	24	142	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49697949	49697949	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr3:49697949C>T	ENST00000296452.4	+	6	8785	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2891					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCCTGGTCCGCAAGGTGAA	0.657																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(8671-8673)Cgc>Tgc		bassoon presynaptic cytomatrix protein							79.0	83.0	82.0					3																	49697949		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49697949C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8671C>T	3.37:g.49697949C>T	ENSP00000296452:p.Arg2891Cys		Somatic					p.R2891C	NM_003458.3	NP_003449.2	WXS	Illumina GAIIx	Phase_I	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	8785	+			2891					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.8671C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776719	0.31411	.	.	ENSG00000164061	ENST00000296452	T	0.26223	1.75	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.42548	-0.9445	10	0.87932	D	0	-12.6757	14.2028	0.65716	0.1501:0.8499:0.0:0.0	.	2891	Q9UPA5	BSN_HUMAN	C	2891	ENSP00000296452:R2891C	ENSP00000296452:R2891C	R	+	1	0	BSN	49672953	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.120000	0.41968	2.334000	0.79466	0.655000	0.94253	CGC		0.657	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	178	6	178	---	---	---	---
PLK4	10733	broad.mit.edu	37	4	128818021	128818021	+	Silent	SNP	G	G	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr4:128818021G>T	ENST00000270861.5	+	15	3043	c.2769G>T	c.(2767-2769)gtG>gtT	p.V923V	PLK4_ENST00000507249.1_Silent_p.V862V|PLK4_ENST00000513090.1_Silent_p.V891V|PLK4_ENST00000514379.1_Silent_p.V882V|PLK4_ENST00000515069.1_Silent_p.V845V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	923	POLO box. {ECO:0000255|PROSITE- ProRule:PRU00154}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGGCAGGAGTGTCTTCTATCA	0.403																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2767-2769)gtG>gtT		polo-like kinase 4							127.0	113.0	118.0					4																	128818021		2203	4300	6503	SO:0001819	synonymous_variant	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128818021G>T	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2769G>T	4.37:g.128818021G>T			Somatic				PLK4_ENST00000507249.1_Silent_p.V862V|PLK4_ENST00000513090.1_Silent_p.V891V|PLK4_ENST00000515069.1_Silent_p.V845V|PLK4_ENST00000514379.1_Silent_p.V882V	p.V923V	NM_014264.4	NP_055079.3	WXS	Illumina GAIIx	Phase_I	O00444	PLK4_HUMAN			15	3043	+			923			POLO box.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	c.2769G>T	CCDS3735.1																																																																																				0.403	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			5	94	5	94	---	---	---	---
SH3TC2	79628	broad.mit.edu	37	5	148418008	148418008	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr5:148418008T>C	ENST00000515425.1	-	8	952	c.851A>G	c.(850-852)aAg>aGg	p.K284R	SH3TC2_ENST00000394358.2_Missense_Mutation_p.K169R|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K277R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	284	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCATCCTTTTCTCCTGG	0.483																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(850-852)aAg>aGg		SH3 domain and tetratricopeptide repeats 2							186.0	188.0	187.0					5																	148418008		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148418008T>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.851A>G	5.37:g.148418008T>C	ENSP00000423660:p.Lys284Arg		Somatic				SH3TC2_ENST00000394358.2_Missense_Mutation_p.K169R|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K277R|SH3TC2_ENST00000538184.1_5'UTR	p.K284R	NM_024577.3	NP_078853.2	WXS	Illumina GAIIx	Phase_I	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	952	-			284			SH3.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.851A>G	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	T	2.611	-0.290824	0.05568	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.30182	1.54;1.54;1.54	4.88	0.744	0.18353	Src homology-3 domain (4);	0.526239	0.19603	N	0.110323	T	0.13329	0.0323	L	0.27053	0.805	0.23492	N	0.997566	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.18871	0.002;0.01;0.023	T	0.20107	-1.0285	10	0.07990	T	0.79	.	0.433	0.00474	0.1789:0.2438:0.1848:0.3925	.	169;277;284	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	R	284;277;169	ENSP00000423660:K284R;ENSP00000421860:K277R;ENSP00000377886:K169R	ENSP00000377886:K169R	K	-	2	0	SH3TC2	148398201	1.000000	0.71417	0.880000	0.34516	0.545000	0.35147	0.860000	0.27871	0.290000	0.22444	0.459000	0.35465	AAG		0.483	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		3	198	3	198	---	---	---	---
MCM3	4172	broad.mit.edu	37	6	52137119	52137119	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:52137119T>G	ENST00000229854.7	-	12	1883	c.1807A>C	c.(1807-1809)Atg>Ctg	p.M603L	MCM3_ENST00000419835.2_Missense_Mutation_p.M557L|MCM3_ENST00000596288.1_Missense_Mutation_p.M648L			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	603					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TCTGAGCTCATGCTATCCTGG	0.567																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1942-1944)Atg>Ctg		minichromosome maintenance complex component 3							132.0	112.0	119.0					6																	52137119		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52137119T>G	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1807A>C	6.37:g.52137119T>G	ENSP00000229854:p.Met603Leu		Somatic				MCM3_ENST00000229854.7_Missense_Mutation_p.M603L|MCM3_ENST00000419835.2_Missense_Mutation_p.M557L	p.M648L	NM_002388.4	NP_002379.3	WXS	Illumina GAIIx	Phase_I	P25205	MCM3_HUMAN			12	1969	-	Lung NSC(77;0.0931)		603					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.1942A>C		.	.	.	.	.	.	.	.	.	.	T	11.75	1.732644	0.30684	.	.	ENSG00000112118	ENST00000229854;ENST00000340349;ENST00000419835;ENST00000421471	T;T;T	0.29655	4.42;2.65;1.56	5.33	4.14	0.48551	.	0.369853	0.22560	N	0.058479	T	0.02688	0.0081	N	0.00972	-1.085	0.41646	D	0.989102	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.004	T	0.41197	-0.9522	10	0.02654	T	1	-27.2638	11.3148	0.49386	0.0:0.0:0.2904:0.7096	.	557;603	B4DUQ9;P25205	.;MCM3_HUMAN	L	603;100;557;98	ENSP00000229854:M603L;ENSP00000388647:M557L;ENSP00000407651:M98L	ENSP00000229854:M603L	M	-	1	0	MCM3	52245078	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.155000	0.31700	1.002000	0.39104	0.533000	0.62120	ATG		0.567	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			5	79	5	79	---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70447838	70447838	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:70447838T>C	ENST00000370577.3	-	7	861	c.632A>G	c.(631-633)tAc>tGc	p.Y211C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y138C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	211					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTACTGTGTAAGTTATAGC	0.284																																						ENST00000370577.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(631-633)tAc>tGc		LMBR1 domain containing 1							46.0	44.0	44.0					6																	70447838		2200	4296	6496	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70447838T>C	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.632A>G	6.37:g.70447838T>C	ENSP00000359609:p.Tyr211Cys		Somatic				LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y138C	p.Y211C	NM_018368.3	NP_060838.3	WXS	Illumina GAIIx	Phase_I	Q9NUN5	LMBD1_HUMAN			7	861	-			211					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.632A>G	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	t	20.7	4.032389	0.75504	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.26518	1.73;1.73	5.95	5.95	0.96441	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.52902	-0.8513	10	0.54805	T	0.06	-7.5447	15.4149	0.74960	0.0:0.0:0.0:1.0	.	211	Q9NUN5	LMBD1_HUMAN	C	211;138	ENSP00000359609:Y211C;ENSP00000359602:Y138C	ENSP00000359602:Y138C	Y	-	2	0	LMBRD1	70504559	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.895000	0.75660	2.281000	0.76405	0.528000	0.53228	TAC		0.284	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		3	27	3	27	---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84671533	84671533	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr7:84671533G>C	ENST00000284136.6	-	8	973	c.930C>G	c.(928-930)tgC>tgG	p.C310W	SEMA3D_ENST00000484038.1_5'Flank	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	310	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAGGAATTGAGCAAATCAGTC	0.378																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(928-930)tgC>tgG		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							283.0	261.0	268.0					7																	84671533		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84671533G>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.930C>G	7.37:g.84671533G>C	ENSP00000284136:p.Cys310Trp		Somatic					p.C310W	NM_152754.2	NP_689967.2	WXS	Illumina GAIIx	Phase_I	O95025	SEM3D_HUMAN			8	973	-			310			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.930C>G	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227384	0.58668	.	.	ENSG00000153993	ENST00000284136	D	0.94092	-3.35	5.7	2.93	0.34026	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.083545	0.85682	D	0.000000	D	0.97501	0.9182	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96736	0.9543	10	0.87932	D	0	.	9.4083	0.38475	0.299:0.0:0.701:0.0	.	310	O95025	SEM3D_HUMAN	W	310	ENSP00000284136:C310W	ENSP00000284136:C310W	C	-	3	2	SEMA3D	84509469	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.949000	0.29109	0.764000	0.33197	0.650000	0.86243	TGC		0.378	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		10	293	10	293	---	---	---	---
SOHLH1	402381	broad.mit.edu	37	9	138588485	138588485	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr9:138588485C>A	ENST00000298466.5	-	5	694	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V212L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	212					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CCACCCCGCACCTGGCACAGC	0.672																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(634-636)Gtg>Ttg		spermatogenesis and oogenesis specific basic helix-loop-helix 1							43.0	40.0	41.0					9																	138588485		2202	4298	6500	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138588485C>A	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.634G>T	9.37:g.138588485C>A	ENSP00000298466:p.Val212Leu		Somatic				SOHLH1_ENST00000425225.1_Missense_Mutation_p.V212L	p.V212L	NM_001012415.2	NP_001012415	WXS	Illumina GAIIx	Phase_I	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	5	694	-		Myeloproliferative disorder(178;0.0511)	212					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.634G>T	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	C	9.051	0.992153	0.18966	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.28666	1.6;1.7	1.95	0.943	0.19531	.	.	.	.	.	T	0.16811	0.0404	L	0.32530	0.975	0.09310	N	1	B;B	0.22211	0.066;0.039	B;B	0.20955	0.032;0.014	T	0.34104	-0.9842	9	0.05436	T	0.98	-6.1775	5.9873	0.19442	0.0:0.6692:0.3308:0.0	.	212;212	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	L	212	ENSP00000298466:V212L;ENSP00000404438:V212L	ENSP00000298466:V212L	V	-	1	0	SOHLH1	137728306	0.000000	0.05858	0.009000	0.14445	0.006000	0.05464	-0.039000	0.12124	0.328000	0.23435	0.563000	0.77884	GTG		0.672	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		11	28	11	28	---	---	---	---
CCKBR	887	broad.mit.edu	37	11	6281223	6281223	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:6281223G>C	ENST00000334619.2	+	1	258	c.65G>C	c.(64-66)tGc>tCc	p.C22S	CCKBR_ENST00000532715.1_Missense_Mutation_p.C22S|CCKBR_ENST00000525014.1_Missense_Mutation_p.C22S|CCKBR_ENST00000525462.1_Missense_Mutation_p.C22S|CCKBR_ENST00000531712.1_Missense_Mutation_p.C22S	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	22					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTTCCCTGTGCCGCCCGGGG	0.716																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(64-66)tGc>tCc		cholecystokinin B receptor	Pentagastrin(DB00183)						9.0	13.0	11.0					11																	6281223		2164	4244	6408	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6281223G>C	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.65G>C	11.37:g.6281223G>C	ENSP00000335544:p.Cys22Ser		Somatic				CCKBR_ENST00000532715.1_Missense_Mutation_p.C22S|CCKBR_ENST00000334619.2_Missense_Mutation_p.C22S|CCKBR_ENST00000525014.1_Missense_Mutation_p.C22S|CCKBR_ENST00000531712.1_Missense_Mutation_p.C22S	p.C22S			WXS	Illumina GAIIx	Phase_I	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	1	68	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	22					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.65G>C	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	g	6.182	0.401755	0.11696	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525014;ENST00000525462;ENST00000531712	T;D;T;T;T	0.82619	0.44;-1.63;0.05;0.44;0.08	2.75	2.75	0.32379	.	0.141986	0.32640	U	0.005837	D	0.85191	0.5640	M	0.65975	2.015	0.30137	N	0.804284	D;B	0.53462	0.96;0.255	D;B	0.69142	0.962;0.053	T	0.77822	-0.2445	10	0.05351	T	0.99	.	9.2026	0.37268	0.0:0.0:1.0:0.0	.	22;22	P32239-2;P32239	.;GASR_HUMAN	S	22	ENSP00000335544:C22S;ENSP00000432079:C22S;ENSP00000437001:C22S;ENSP00000435534:C22S;ENSP00000435675:C22S	ENSP00000335544:C22S	C	+	2	0	CCKBR	6237799	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	2.582000	0.46085	1.859000	0.53934	0.580000	0.79431	TGC		0.716	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		3	10	3	10	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55873014	55873014	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:55873014T>A	ENST00000313503.1	+	1	496	c.496T>A	c.(496-498)Ttg>Atg	p.L166M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATGAGCAGATTGCATTTCTA	0.428										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(496-498)Ttg>Atg		olfactory receptor, family 8, subfamily H, member 2							254.0	228.0	237.0					11																	55873014		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873014T>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.496T>A	11.37:g.55873014T>A	ENSP00000323982:p.Leu166Met	HNSCC(53;0.14)	Somatic					p.L166M	NM_001005200.1	NP_001005200.1	WXS	Illumina GAIIx	Phase_I	Q8N162	OR8H2_HUMAN			1	496	+	Esophageal squamous(21;0.00693)		166					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.496T>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	14.52	2.559988	0.45590	.	.	ENSG00000181767	ENST00000313503	T	0.00293	8.26	3.35	-1.97	0.07503	GPCR, rhodopsin-like superfamily (1);	0.172224	0.27539	N	0.018915	T	0.00552	0.0018	M	0.86573	2.825	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.43523	-0.9386	10	0.87932	D	0	.	6.0686	0.19877	0.0:0.3887:0.1383:0.4729	.	166	Q8N162	OR8H2_HUMAN	M	166	ENSP00000323982:L166M	ENSP00000323982:L166M	L	+	1	2	OR8H2	55629590	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-2.714000	0.00815	-0.278000	0.09180	-0.683000	0.03753	TTG		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		8	215	8	215	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55794777	55794777	+	Silent	SNP	T	T	C	rs369117094|rs371380701		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:55794777T>C	ENST00000379665.2	+	1	564	c.465T>C	c.(463-465)ttT>ttC	p.F155F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TCATTATTTTTCCCCCCGTGA	0.438																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(463-465)ttT>ttC		olfactory receptor, family 6, subfamily C, member 65				2,4404	2.1+/-5.4	0,2,2201	147.0	155.0	152.0		465	-4.8	0.0	12		152	0,8600		0,0,4300	no	coding-synonymous	OR6C65	NM_001005518.1		0,2,6501	CC,CT,TT		0.0,0.0454,0.0154		155/313	55794777	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794777T>C		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.465T>C	12.37:g.55794777T>C			Somatic					p.F155F	NM_001005518.1	NP_001005518.1	WXS	Illumina GAIIx	Phase_I	A6NJZ3	O6C65_HUMAN			1	564	+			155					B2RNH9	Silent	SNP	ENST00000379665.2	37	c.465T>C	CCDS31821.1																																																																																				0.438	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			4	151	4	151	---	---	---	---
PRMT5	10419	broad.mit.edu	37	14	23395506	23395506	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:23395506C>G	ENST00000324366.8	-	7	837		c.e7-1		PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397441.2_Splice_Site|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000538452.1_Splice_Site|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553641.1_Splice_Site|PRMT5_ENST00000553897.1_Splice_Site|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Splice_Site	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ATTTCAAGAGCTACATGAGGC	0.473																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.e7-1		protein arginine methyltransferase 5							67.0	71.0	70.0					14																	23395506		2203	4300	6503	SO:0001630	splice_region_variant	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23395506C>G	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.614-1G>C	14.37:g.23395506C>G			Somatic				PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Splice_Site|PRMT5_ENST00000553897.1_Splice_Site|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000553641.1_Splice_Site|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Splice_Site|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397441.2_Splice_Site		NM_006109.3	NP_006100.2	WXS	Illumina GAIIx	Phase_I	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	7	837	-	all_cancers(95;2.76e-05)							A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Splice_Site	SNP	ENST00000324366.8	37		CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182187	0.78677	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000555530;ENST00000554867;ENST00000556616;ENST00000554910	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2366	0.89951	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRMT5	22465346	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.122000	0.77169	2.666000	0.90696	0.561000	0.74099	.		0.473	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3		Intron	3	57	3	57	---	---	---	---
MOAP1	64112	broad.mit.edu	37	14	93649914	93649914	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:93649914T>C	ENST00000556883.1	-	2	1158	c.674A>G	c.(673-675)aAt>aGt	p.N225S	TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.N225S			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	225					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		aattaaaggattgtttatctt	0.453																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(673-675)aAt>aGt		modulator of apoptosis 1							113.0	124.0	120.0					14																	93649914		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93649914T>C	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.674A>G	14.37:g.93649914T>C	ENSP00000451594:p.Asn225Ser		Somatic				MOAP1_ENST00000298894.4_Missense_Mutation_p.N225S	p.N225S			WXS	Illumina GAIIx	Phase_I	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	1158	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	225					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.674A>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.289653	0.23478	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.14144	2.53;2.53	3.65	-3.22	0.05125	.	.	.	.	.	T	0.16257	0.0391	M	0.75615	2.305	0.09310	N	1	B	0.26602	0.154	B	0.28011	0.085	T	0.30446	-0.9978	9	0.52906	T	0.07	0.0015	9.0015	0.36085	0.0:0.512:0.0:0.488	.	225	Q96BY2	MOAP1_HUMAN	S	225	ENSP00000298894:N225S;ENSP00000451594:N225S	ENSP00000298894:N225S	N	-	2	0	MOAP1	92719667	0.014000	0.17966	0.000000	0.03702	0.791000	0.44710	-0.115000	0.10741	-0.630000	0.05567	-0.451000	0.05528	AAT		0.453	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			29	95	29	95	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93485179	93485179	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:93485179A>G	ENST00000394196.4	+	8	1888	c.820A>G	c.(820-822)Aaa>Gaa	p.K274E	CHD2_ENST00000420239.2_Missense_Mutation_p.K274E|CHD2_ENST00000557381.1_Missense_Mutation_p.K274E|CHD2_ENST00000536619.1_Missense_Mutation_p.K287E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	274	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACTGGGAAAGAAAGGAGGTAT	0.328																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(820-822)Aaa>Gaa		chromodomain helicase DNA binding protein 2							105.0	107.0	107.0					15																	93485179		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93485179A>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.820A>G	15.37:g.93485179A>G	ENSP00000377747:p.Lys274Glu		Somatic				CHD2_ENST00000557381.1_Missense_Mutation_p.K274E|CHD2_ENST00000536619.1_Missense_Mutation_p.K287E|CHD2_ENST00000420239.2_Missense_Mutation_p.K274E	p.K274E	NM_001271.3	NP_001262.3	WXS	Illumina GAIIx	Phase_I	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		8	1888	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		274			Chromo 1.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.820A>G	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	27.5	4.836954	0.91117	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.37	5.37	0.77165	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.36268	U	0.002681	D	0.82508	0.5052	M	0.74881	2.28	0.58432	D	0.999999	D;D;P;D	0.69078	0.976;0.988;0.939;0.997	P;D;P;D	0.79108	0.878;0.973;0.506;0.992	T	0.80830	-0.1207	10	0.25751	T	0.34	-22.7353	15.384	0.74681	1.0:0.0:0.0:0.0	.	287;274;274;274	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	E	274;274;274;287	ENSP00000377747:K274E;ENSP00000451366:K274E;ENSP00000406581:K274E;ENSP00000443618:K287E	ENSP00000311700:K27E	K	+	1	0	CHD2	91286183	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.624000	0.90961	2.033000	0.60031	0.528000	0.53228	AAA		0.328	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		3	97	3	97	---	---	---	---
PARD6A	50855	broad.mit.edu	37	16	67694962	67694962	+	Silent	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:67694962T>C	ENST00000219255.3	+	1	101	c.21T>C	c.(19-21)acT>acC	p.T7T	ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|PARD6A_ENST00000458121.2_Silent_p.T7T|PARD6A_ENST00000602551.1_Silent_p.T7T			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	7	Interaction with PRKCI and PRKCZ.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGCAGAGGACTCCGGCGCGCA	0.751																																						ENST00000458121.2																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(19-21)acT>acC		par-6 family cell polarity regulator alpha							30.0	37.0	34.0					16																	67694962		2195	4298	6493	SO:0001819	synonymous_variant	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67694962T>C		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.21T>C	16.37:g.67694962T>C			Somatic				PARD6A_ENST00000602551.1_Silent_p.T7T|PARD6A_ENST00000219255.3_Silent_p.T7T	p.T7T	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	WXS	Illumina GAIIx	Phase_I	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	112	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	7			Interaction with PRKCI and PRKCZ.		O14911|Q9NPJ7	Silent	SNP	ENST00000219255.3	37	c.21T>C	CCDS10843.1																																																																																				0.751	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948		4	49	4	49	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70154579	70154579	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:70154579T>G	ENST00000288050.4	+	3	1141	c.184T>G	c.(184-186)Tcc>Gcc	p.S62A	PDPR_ENST00000568530.1_Missense_Mutation_p.S62A|PDPR_ENST00000398122.3_Intron	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	62					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTATCACCTCTCCAAAATGGG	0.557																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(184-186)Tcc>Gcc		pyruvate dehydrogenase phosphatase regulatory subunit							78.0	75.0	76.0					16																	70154579		2028	4193	6221	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70154579T>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.184T>G	16.37:g.70154579T>G	ENSP00000288050:p.Ser62Ala		Somatic				PDPR_ENST00000398122.3_Intron|PDPR_ENST00000568530.1_Missense_Mutation_p.S62A	p.S62A	NM_017990.3	NP_060460.4	WXS	Illumina GAIIx	Phase_I	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	3	1141	+			62					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.184T>G	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	T	2.660	-0.280070	0.05642	.	.	ENSG00000090857	ENST00000288050	T	0.77620	-1.11	4.13	2.99	0.34606	FAD dependent oxidoreductase (1);	0.065047	0.64402	D	0.000010	T	0.41143	0.1146	N	0.00621	-1.32	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47381	-0.9122	10	0.02654	T	1	.	10.2579	0.43408	0.0:0.0:0.3146:0.6853	.	62	Q8NCN5	PDPR_HUMAN	A	62	ENSP00000288050:S62A	ENSP00000288050:S62A	S	+	1	0	PDPR	68712080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.020000	0.41010	0.525000	0.28522	0.411000	0.27672	TCC		0.557	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		4	96	4	96	---	---	---	---
FZR1	51343	broad.mit.edu	37	19	3527681	3527681	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr19:3527681C>G	ENST00000395095.3	+	6	523	c.523C>G	c.(523-525)Ccc>Gcc	p.P175A	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Missense_Mutation_p.P175A	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	175					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAAGATCCCCTTCAAGGT	0.642																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(523-525)Ccc>Gcc		fizzy/cell division cycle 20 related 1 (Drosophila)							89.0	73.0	78.0					19																	3527681		2200	4298	6498	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3527681C>G	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.523C>G	19.37:g.3527681C>G	ENSP00000378529:p.Pro175Ala		Somatic				FZR1_ENST00000395095.3_Missense_Mutation_p.P175A|FZR1_ENST00000313639.8_Intron	p.P175A	NM_016263.3	NP_057347.2	WXS	Illumina GAIIx	Phase_I	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	7	759	+			175					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.523C>G	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392223	0.83011	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.20881	2.04;2.04	5.14	5.14	0.70334	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47673	0.1458	M	0.79614	2.46	0.80722	D	1	D;P	0.71674	0.998;0.941	D;P	0.66979	0.948;0.788	T	0.48790	-0.9004	10	0.52906	T	0.07	-53.769	17.2027	0.86910	0.0:1.0:0.0:0.0	.	175;175	Q9UM11;Q9UM11-2	FZR_HUMAN;.	A	175	ENSP00000410369:P175A;ENSP00000378529:P175A	ENSP00000378529:P175A	P	+	1	0	FZR1	3478681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.682000	0.61671	2.399000	0.81585	0.655000	0.94253	CCC		0.642	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		4	55	4	55	---	---	---	---
EMR2	30817	broad.mit.edu	37	19	14877064	14877064	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr19:14877064T>A	ENST00000315576.3	-	7	1068	c.617A>T	c.(616-618)aAc>aTc	p.N206I	EMR2_ENST00000601345.1_Missense_Mutation_p.N206I|EMR2_ENST00000596991.2_Missense_Mutation_p.N206I|EMR2_ENST00000392967.2_Missense_Mutation_p.N206I|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.N206I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000353005.1_Intron	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	206	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GACGGTATTGTTTGGGCCATT	0.592																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(616-618)aAc>aTc		egf-like module containing, mucin-like, hormone receptor-like 2							104.0	111.0	108.0					19																	14877064		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14877064T>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.617A>T	19.37:g.14877064T>A	ENSP00000319883:p.Asn206Ile		Somatic				EMR2_ENST00000353005.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.N206I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.N206I|EMR2_ENST00000596991.2_Missense_Mutation_p.N206I|EMR2_ENST00000392967.2_Missense_Mutation_p.N206I|EMR2_ENST00000392964.3_Intron	p.N206I	NM_013447.3	NP_038475.2	WXS	Illumina GAIIx	Phase_I	Q9UHX3	EMR2_HUMAN			7	1068	-			206			EGF-like 4; calcium-binding (Potential).		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.617A>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	T	7.843	0.722391	0.15439	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000360222;ENST00000392965	D;D;D	0.82803	-1.65;-1.65;-1.65	2.96	-0.792	0.10925	EGF-like calcium-binding (2);	.	.	.	.	T	0.73313	0.3571	L	0.38175	1.15	0.09310	N	1	B;B;B	0.27286	0.022;0.087;0.174	B;B;B	0.33690	0.02;0.035;0.168	T	0.62440	-0.6854	9	0.49607	T	0.09	.	4.2779	0.10818	0.2005:0.0:0.4114:0.3881	.	206;206;206	E7ESD7;Q9UHX3;Q9UHX3-2	.;EMR2_HUMAN;.	I	206	ENSP00000319883:N206I;ENSP00000376694:N206I;ENSP00000376692:N206I	ENSP00000319883:N206I	N	-	2	0	EMR2	14738064	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.102000	0.15272	-0.234000	0.09782	-0.797000	0.03246	AAC		0.592	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			12	185	12	185	---	---	---	---
ITGB2	3689	broad.mit.edu	37	21	46320321	46320321	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr21:46320321C>A	ENST00000397850.2	-	8	1263	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	ITGB2_ENST00000355153.4_Missense_Mutation_p.G271C|ITGB2_ENST00000397854.3_Missense_Mutation_p.G214C|ITGB2_ENST00000397852.1_Missense_Mutation_p.G271C|ITGB2_ENST00000397857.1_Missense_Mutation_p.G271C|ITGB2_ENST00000302347.5_Missense_Mutation_p.G271C			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	271	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTCCCGTCGCCCGCGAAATGG	0.622																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(811-813)Ggc>Tgc		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						96.0	83.0	88.0					21																	46320321		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320321C>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.811G>T	21.37:g.46320321C>A	ENSP00000380948:p.Gly271Cys		Somatic				ITGB2_ENST00000397854.3_Missense_Mutation_p.G214C|ITGB2_ENST00000397857.1_Missense_Mutation_p.G271C|ITGB2_ENST00000302347.5_Missense_Mutation_p.G271C|ITGB2_ENST00000355153.4_Missense_Mutation_p.G271C|ITGB2_ENST00000397852.1_Missense_Mutation_p.G271C	p.G271C			WXS	Illumina GAIIx	Phase_I	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	8	1263	-			271			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.811G>T	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298559	0.60195	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	D;D;D;D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64;-4.64;-4.64;-4.64	4.98	4.98	0.66077	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	D	0.99055	0.9676	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99267	1.0892	9	0.87932	D	0	.	15.7916	0.78369	0.0:1.0:0.0:0.0	.	214;271	A8MYE6;P05107	.;ITB2_HUMAN	C	271;271;214;271;271;271;214;262	ENSP00000380950:G271C;ENSP00000380955:G271C;ENSP00000380952:G214C;ENSP00000347279:G271C;ENSP00000380948:G271C;ENSP00000303242:G271C;ENSP00000317697:G262C	ENSP00000303242:G271C	G	-	1	0	ITGB2	45144749	1.000000	0.71417	0.135000	0.22099	0.033000	0.12548	7.143000	0.77348	2.593000	0.87608	0.655000	0.94253	GGC		0.622	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		15	52	15	52	---	---	---	---
APOBEC3B	9582	broad.mit.edu	37	22	39385568	39385568	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr22:39385568G>A	ENST00000333467.3	+	5	721	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.G226S|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G226S	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	226					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CCTGGACAATGGCACCTGGGT	0.562																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(676-678)Ggc>Agc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							73.0	63.0	66.0					22																	39385568		2198	4279	6477	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39385568G>A	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.676G>A	22.37:g.39385568G>A	ENSP00000327459:p.Gly226Ser		Somatic				APOBEC3B_ENST00000333467.3_Missense_Mutation_p.G226S|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G226S	p.G226S			WXS	Illumina GAIIx	Phase_I	Q9UH17	ABC3B_HUMAN			5	731	+	Melanoma(58;0.04)		226					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.676G>A	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	12.27	1.887261	0.33348	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.58797	0.31;0.31;0.31	1.92	0.886	0.19194	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.44030	0.1274	L	0.46885	1.475	0.09310	N	1	B;B	0.29590	0.063;0.25	B;B	0.30646	0.118;0.068	T	0.28170	-1.0052	9	0.23302	T	0.38	.	4.2559	0.10717	0.2088:0.0:0.7912:0.0	.	226;226	B0QYD2;Q9UH17	.;ABC3B_HUMAN	S	226	ENSP00000385068:G226S;ENSP00000385060:G226S;ENSP00000327459:G226S	ENSP00000327459:G226S	G	+	1	0	APOBEC3B	37715514	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.065000	0.14466	0.369000	0.24510	0.449000	0.29647	GGC		0.562	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		13	28	13	28	---	---	---	---
GLRA2	2742	broad.mit.edu	37	X	14627241	14627241	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:14627241G>A	ENST00000218075.4	+	7	1374	c.844G>A	c.(844-846)Gca>Aca	p.A282T	GLRA2_ENST00000355020.4_Missense_Mutation_p.A282T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A193T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	282					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AAATATGGATGCAGCCCCTGC	0.478																																						ENST00000218075.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(844-846)Gca>Aca		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						95.0	94.0	94.0					X																	14627241		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14627241G>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.844G>A	X.37:g.14627241G>A	ENSP00000218075:p.Ala282Thr		Somatic				GLRA2_ENST00000355020.4_Missense_Mutation_p.A282T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A193T	p.A282T	NM_002063.3	NP_002054.1	WXS	Illumina GAIIx	Phase_I	P23416	GLRA2_HUMAN			7	1374	+	Hepatocellular(33;0.128)		282					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.844G>A	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437736	0.96168	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.89123	-2.47;-2.47;-2.47	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	M	0.84433	2.695	0.80722	D	1	D;D;D	0.71674	0.996;0.997;0.998	D;D;D	0.77004	0.967;0.989;0.983	D	0.95649	0.8705	10	0.87932	D	0	.	18.7674	0.91879	0.0:0.0:1.0:0.0	.	266;282;282	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	193;282;282	ENSP00000387756:A193T;ENSP00000218075:A282T;ENSP00000347123:A282T	ENSP00000218075:A282T	A	+	1	0	GLRA2	14537162	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.771000	0.98977	2.378000	0.81104	0.600000	0.82982	GCA		0.478	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			4	75	4	75	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122616696	122616696	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:122616696A>C	ENST00000371251.1	+	15	2538	c.2486A>C	c.(2485-2487)tAt>tCt	p.Y829S	GRIA3_ENST00000371256.5_Missense_Mutation_p.Y829S|GRIA3_ENST00000264357.5_Missense_Mutation_p.Y829S|GRIA3_ENST00000542149.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	829					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGCGTTTTCTATATACTTGTC	0.468																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(2485-2487)tAt>tCt		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						105.0	99.0	101.0					X																	122616696		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122616696A>C	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2486A>C	X.37:g.122616696A>C	ENSP00000360297:p.Tyr829Ser		Somatic				GRIA3_ENST00000371251.1_Missense_Mutation_p.Y829S|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y829S	p.Y829S	NM_000828.4	NP_000819	WXS	Illumina GAIIx	Phase_I	P42263	GRIA3_HUMAN			15	2778	+			829					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.2486A>C	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970733	0.74246	.	.	ENSG00000125675	ENST00000264357;ENST00000371256;ENST00000371251	T;T;T	0.55234	0.53;0.53;0.53	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.77191	0.4094	M	0.90309	3.105	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.991	T	0.82426	-0.0463	10	0.87932	D	0	.	14.1842	0.65595	1.0:0.0:0.0:0.0	.	829;829	P42263;P42263-2	GRIA3_HUMAN;.	S	829	ENSP00000264357:Y829S;ENSP00000360302:Y829S;ENSP00000360297:Y829S	ENSP00000264357:Y829S	Y	+	2	0	GRIA3	122444377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.947000	0.56498	0.486000	0.48141	TAT		0.468	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		9	54	9	54	---	---	---	---
STK26	51765	broad.mit.edu	37	X	131188793	131188793	+	Silent	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:131188793A>G	ENST00000354719.6	+	3	393	c.177A>G	c.(175-177)gaA>gaG	p.E59E	MST4_ENST00000394335.2_Intron|MST4_ENST00000394334.2_Silent_p.E59E|MST4_ENST00000496850.1_Silent_p.E59E|MST4_ENST00000481105.1_Silent_p.E59E																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACCTTGAGGAAGCCGAAGATG	0.373																																						ENST00000394334.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(175-177)gaA>gaG									78.0	72.0	74.0					X																	131188793		2203	4300	6503	SO:0001819	synonymous_variant	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131188793A>G																												ENST00000354719.6:c.177A>G	X.37:g.131188793A>G			Somatic				MST4_ENST00000354719.6_Silent_p.E59E|MST4_ENST00000496850.1_Silent_p.E59E|MST4_ENST00000481105.1_Silent_p.E59E|MST4_ENST00000394335.2_Intron	p.E59E	NM_016542.3	NP_057626.2	WXS	Illumina GAIIx	Phase_I	Q9P289	MST4_HUMAN			3	430	+	Acute lymphoblastic leukemia(192;0.000127)		59			Protein kinase.			Silent	SNP	ENST00000354719.6	37	c.177A>G																																																																																					0.373	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			23	20	23	20	---	---	---	---
SRPK3	26576	broad.mit.edu	37	X	153046771	153046771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:153046771G>T	ENST00000370101.3	+	2	206	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	SRPK3_ENST00000370100.1_Nonsense_Mutation_p.E12*|SRPK3_ENST00000370104.1_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370108.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000489426.1_Nonsense_Mutation_p.E121*|SRPK3_ENST00000393786.3_Nonsense_Mutation_p.E54*	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	54					cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACGACGAGGAACAGGAAGA	0.667																																					Esophageal Squamous(167;766 3400 32156)	ENST00000489426.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(361-363)Gaa>Taa		SRSF protein kinase 3							30.0	31.0	31.0					X																	153046771		2198	4294	6492	SO:0001587	stop_gained	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153046771G>T	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.160G>T	X.37:g.153046771G>T	ENSP00000359119:p.Glu54*		Somatic				SRPK3_ENST00000370104.1_Nonsense_Mutation_p.E54*|SRPK3_ENST00000393786.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370101.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370100.1_Nonsense_Mutation_p.E12*|SRPK3_ENST00000370108.3_Nonsense_Mutation_p.E54*	p.E121*			WXS	Illumina GAIIx	Phase_I	Q9UPE1	SRPK3_HUMAN			8	2727	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		54			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Nonsense_Mutation	SNP	ENST00000370101.3	37	c.361G>T	CCDS35441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.859597|4.859597	0.91433|0.91433	.|.	.|.	ENSG00000184343|ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100|ENST00000430541	.|.	.|.	.|.	4.21|4.21	4.21|4.21	0.49690|0.49690	.|.	0.000000|.	0.51477|.	D|.	0.000081|.	.|T	.|0.62417	.|0.2426	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70450	.|-0.4868	.|3	0.87932|.	D|.	0|.	-23.636|-23.636	13.035|13.035	0.58864|0.58864	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	121;54;54;54;54;12|67	.|.	ENSP00000359118:E12X|.	E|R	+|+	1|3	0|2	SRPK3|SRPK3	152699965|152699965	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.374000|0.374000	0.29953|0.29953	5.031000|5.031000	0.64134|0.64134	1.928000|1.928000	0.55862|0.55862	0.529000|0.529000	0.55759|0.55759	GAA|AGG		0.667	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		3	15	3	15	---	---	---	---
CDKN1B	1027	broad.mit.edu	37	12	12871144	12871145	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:12871144_12871145insCT	ENST00000228872.4	+	1	1087_1088	c.371_372insCT	c.(370-375)aactctfs	p.NS124fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.NS124fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	124					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GCTCCGGCTAACTCTGAGGACA	0.653																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(370-375)aactctfs		cyclin-dependent kinase inhibitor 1B (p27, Kip1)																																				SO:0001589	frameshift_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871144_12871145insCT	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.374_375dupCT	12.37:g.12871147_12871148dupCT	ENSP00000228872:p.Asn124fs		Somatic				CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.NS124fs	p.NS124fs	NM_004064.3	NP_004055.1	WXS	Illumina GAIIx	Phase_I	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	1087_1088	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	124					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	ENST00000228872.4	37	c.371_372insCT	CCDS8653.1																																																																																				0.653	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		16	42	16	42	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43748185	43748186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:43748185_43748186insT	ENST00000263801.3	-	12	2857_2858	c.2605_2606insA	c.(2605-2607)atgfs	p.M869fs	TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	869					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCATTAGCCATTTTTGAGTCT	0.47								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2605-2607)atgfs	Other conserved DNA damage response genes	tumor protein p53 binding protein 1																																				SO:0001589	frameshift_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748185_43748186insT	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2606dupA	15.37:g.43748190_43748190dupT	ENSP00000263801:p.Met869fs		Somatic				TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.M874fs	p.M869fs	NM_005657.2	NP_005648.1	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	2857_2858	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	869					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Ins	INS	ENST00000263801.3	37	c.2605_2606insA	CCDS10096.1																																																																																				0.470	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	189	7	189	---	---	---	---
